NIGMS Human Genetic Cell Repository Samples for Which Public Posting of Personally Identifying Genetic Information is Permitted

Public posting of personally identifying genetic information (PIGI) generated from the samples listed below is permitted by the NIGMS Human Genetic Cell Repository. The donors of these samples have signed an informed consent form allowing public posting of extensive genetic data. Examples of PIGI include whole-genome SNP array data, whole-exome sequences, and whole-genome sequences. PIGI pertaining to samples not listed in the tables below may be shared with the scientific community by depositing the data in dbGaP.

CEPH Samples Consented for Public Posting of PIGI
Personal Genome Project Samples Consented for Public Posting of PIGI
Additional Samples Consented for Public Posting of PIGI
 

CEPH Samples Consented for Public Posting of PIGI

Catalog IDDescriptionCell TypeGenderRaceGeneMutationAssociated Specimens
GM06984CEPH/UTAH PEDIGREE 1328B-LymphocyteMaleCaucasian  1328
GM06985CEPH/UTAH PEDIGREE 1341B-LymphocyteFemaleCaucasian  1341
GM06986CEPH/UTAH PEDIGREE 13291B-LymphocyteMaleCaucasian  13291
GM06989CEPH/UTAH PEDIGREE 1328B-LymphocyteFemaleCaucasian  1328
GM06991CEPH/UTAH PEDIGREE 1341B-LymphocyteFemaleCaucasian  1341
GM06993CEPH/UTAH PEDIGREE 1341B-LymphocyteMaleCaucasian  1341
GM06994CEPH/UTAH PEDIGREE 1340B-LymphocyteMaleCaucasian  1340
GM06995CEPH/UTAH PEDIGREE 13291B-LymphocyteMaleCaucasian  13291
GM06997CEPH/UTAH PEDIGREE 13291B-LymphocyteFemaleCaucasian  13291
GM07000CEPH/UTAH PEDIGREE 1340B-LymphocyteFemaleCaucasian  1340
GM07014CEPH/UTAH PEDIGREE 13292B-LymphocyteFemaleCaucasian  13292
GM07019CEPH/UTAH PEDIGREE 1340B-LymphocyteFemaleCaucasian  1340
GM07022CEPH/UTAH PEDIGREE 1340B-LymphocyteMaleCaucasian  1340
GM07029CEPH/UTAH PEDIGREE 1340B-LymphocyteMaleCaucasian  1340
GM07031CEPH/UTAH PEDIGREE 13292B-LymphocyteFemaleCaucasian  13292
GM07034CEPH/UTAH PEDIGREE 1341B-LymphocyteMaleCaucasian  1341
GM07037CEPH/UTAH PEDIGREE 13291B-LymphocyteFemaleCaucasian  13291
GM07045CEPH/UTAH PEDIGREE 13291B-LymphocyteFemaleCaucasian  13291
GM07048CEPH/UTAH PEDIGREE 1341B-LymphocyteMaleCaucasian  1341
GM07051CEPH/UTAH PEDIGREE 13292B-LymphocyteMaleCaucasian  13292
GM07055CEPH/UTAH PEDIGREE 1341B-LymphocyteFemaleCaucasian  1341
GM07056CEPH/UTAH PEDIGREE 1340B-LymphocyteFemaleCaucasian  1340
GM07345CEPH/UTAH PEDIGREE 1345B-LymphocyteFemaleCaucasian  1345
GM07346CEPH/UTAH PEDIGREE 1345B-LymphocyteFemaleCaucasian  1345
GM07347CEPH/UTAH PEDIGREE 1345B-LymphocyteMaleCaucasian  1345
GM07348CEPH/UTAH PEDIGREE 1345B-LymphocyteFemaleCaucasian  1345
GM07349CEPH/UTAH PEDIGREE 1345B-LymphocyteMaleCaucasian  1345
GM07357CEPH/UTAH PEDIGREE 1345B-LymphocyteMaleCaucasian  1345
GM07435CEPH/UTAH PEDIGREE 13291B-LymphocyteMaleCaucasian  13291
GM10830CEPH/UTAH PEDIGREE 1408B-LymphocyteMaleCaucasian  1408
GM10831CEPH/UTAH PEDIGREE 1408B-LymphocyteFemaleCaucasian  1408
GM10835CEPH/UTAH PEDIGREE 1416B-LymphocyteMaleCaucasian  1416
GM10836CEPH/UTAH PEDIGREE 1418B-LymphocyteFemaleCaucasian  1418
GM10837CEPH/UTAH PEDIGREE 1418B-LymphocyteMaleCaucasian  1418
GM10838CEPH/UTAH PEDIGREE 1420B-LymphocyteMaleCaucasian  1420
GM10839CEPH/UTAH PEDIGREE 1420B-LymphocyteFemaleCaucasian  1420
GM10840CEPH/UTAH PEDIGREE 1421B-LymphocyteFemaleCaucasian  1421
GM10842CEPH/UTAH PEDIGREE 1423B-LymphocyteMaleCaucasianUGT1A1 UGT1A7 TA Repeats
7 TA Repeats
1423
GM10843CEPH/UTAH PEDIGREE 1423B-LymphocyteFemaleCaucasianUGT1A1 UGT1A6 TA Repeats
7 TA Repeats
1423
GM10845CEPH/UTAH PEDIGREE 1424B-LymphocyteMaleCaucasian  1424
GM10846CEPH/UTAH PEDIGREE 1334B-LymphocyteMaleCaucasian  1334
GM10847CEPH/UTAH PEDIGREE 1334B-LymphocyteFemaleCaucasian  1334
GM10850CEPH/UTAH PEDIGREE 1344B-LymphocyteFemaleCaucasian  1344
GM10851CEPH/UTAH PEDIGREE 1344B-LymphocyteMaleCaucasian  1344
GM10852CEPH/UTAH PEDIGREE 1346B-LymphocyteFemaleCaucasian  1346
GM10853CEPH/UTAH PEDIGREE 1349B-LymphocyteMaleCaucasian  1349
GM10854CEPH/UTAH PEDIGREE 1349B-LymphocyteFemaleCaucasian  1349
GM10855CEPH/UTAH PEDIGREE 1350B-LymphocyteFemaleCaucasian  1350
GM10856CEPH/UTAH PEDIGREE 1350B-LymphocyteMaleCaucasian  1350
GM10857CEPH/UTAH PEDIGREE 1346B-LymphocyteMaleCaucasian  1346
GM10859CEPH/UTAH PEDIGREE 1347B-LymphocyteFemaleCaucasian  1347
GM10860CEPH/UTAH PEDIGREE 1362B-LymphocyteMaleCaucasian  1362
GM10861CEPH/UTAH PEDIGREE 1362B-LymphocyteFemaleCaucasian  1362
GM10863CEPH/UTAH PEDIGREE 1375B-LymphocyteFemaleCaucasian  1375
GM10864CEPH/UTAH PEDIGREE 1377B-LymphocyteFemaleCaucasian  1377
GM10865CEPH/UTAH PEDIGREE 1377B-LymphocyteMaleCaucasian  1377
GM11829CEPH/UTAH PEDIGREE 1350B-LymphocyteMaleCaucasian  1350
GM11830CEPH/UTAH PEDIGREE 1350B-LymphocyteFemaleCaucasian  1350
GM11831CEPH/UTAH PEDIGREE 1350B-LymphocyteMaleCaucasian  1350
GM11832CEPH/UTAH PEDIGREE 1350B-LymphocyteFemaleCaucasian  1350
GM11839CEPH/UTAH PEDIGREE 1349B-LymphocyteMaleCaucasian  1349
GM11840CEPH/UTAH PEDIGREE 1349B-LymphocyteFemaleCaucasian  1349
GM11843CEPH/UTAH PEDIGREE 1349B-LymphocyteMaleCaucasian  1349
GM11881CEPH/UTAH PEDIGREE 1347B-LymphocyteMaleCaucasian  1347
GM11882CEPH/UTAH PEDIGREE 1347B-LymphocyteFemaleCaucasian  1347
GM11891CEPH/UTAH PEDIGREE 1377B-LymphocyteMaleCaucasian  1377
GM11892CEPH/UTAH PEDIGREE 1377B-LymphocyteFemaleCaucasian  1377
GM11893CEPH/UTAH PEDIGREE 1377B-LymphocyteMaleCaucasian  1377
GM11894CEPH/UTAH PEDIGREE 1377B-LymphocyteFemaleCaucasian  1377
GM11917CEPH/UTAH PEDIGREE 1423B-LymphocyteMaleCaucasian  1423
GM11918CEPH/UTAH PEDIGREE 1423B-LymphocyteFemaleCaucasian  1423
GM11919CEPH/UTAH PEDIGREE 1423B-LymphocyteMaleCaucasian  1423
GM11920CEPH/UTAH PEDIGREE 1423B-LymphocyteFemaleCaucasian  1423
GM11930CEPH/UTAH PEDIGREE 1424B-LymphocyteMaleCaucasian  1424
GM11931CEPH/UTAH PEDIGREE 1424B-LymphocyteFemaleCaucasian  1424
GM11992CEPH/UTAH PEDIGREE 1362B-LymphocyteMaleCaucasian  1362
GM11993CEPH/UTAH PEDIGREE 1362B-LymphocyteFemaleCaucasian  1362
GM11994CEPH/UTAH PEDIGREE 1362B-LymphocyteMaleCaucasian  1362
GM11995CEPH/UTAH PEDIGREE 1362B-LymphocyteFemaleCaucasian  1362
GM12003CEPH/UTAH PEDIGREE 1420B-LymphocyteMaleCaucasianCYP2D6 CYP2DIVSDS3, G>A, +1
VAL11MET,ARG296CYS,SER486THR
1420
GM12004CEPH/UTAH PEDIGREE 1420B-LymphocyteFemaleCaucasian  1420
GM12005CEPH/UTAH PEDIGREE 1420B-LymphocyteMaleCaucasian  1420
GM12006CEPH/UTAH PEDIGREE 1420B-LymphocyteFemaleCaucasian  1420
GM12043CEPH/UTAH PEDIGREE 1346B-LymphocyteMaleCaucasian  1346
GM12044CEPH/UTAH PEDIGREE 1346B-LymphocyteFemaleCaucasian  1346
GM12045CEPH/UTAH PEDIGREE 1346B-LymphocyteMaleCaucasian  1346
GM12056CEPH/UTAH PEDIGREE 1344B-LymphocyteMaleCaucasian  1344
GM12057CEPH/UTAH PEDIGREE 1344B-LymphocyteFemaleCaucasian  1344
GM12058CEPH/UTAH PEDIGREE 1344B-LymphocyteFemaleCaucasian  1344
GM12144CEPH/UTAH PEDIGREE 1334B-LymphocyteMaleCaucasian  1334
GM12145CEPH/UTAH PEDIGREE 1334B-LymphocyteFemaleCaucasian  1334
GM12146CEPH/UTAH PEDIGREE 1334B-LymphocyteMaleCaucasian  1334
GM12154CEPH/UTAH PEDIGREE 1408B-LymphocyteMaleCaucasian  1408
GM12155CEPH/UTAH PEDIGREE 1408B-LymphocyteMaleCaucasian  1408
GM12156CEPH/UTAH PEDIGREE 1408B-LymphocyteFemaleCaucasian  1408
GM12234CEPH/UTAH PEDIGREE 1375B-LymphocyteFemaleCaucasian  1375
GM12239CEPH/UTAH PEDIGREE 1334B-LymphocyteFemaleCaucasian  1334
GM12248CEPH/UTAH PEDIGREE 1416B-LymphocyteMaleCaucasian  1416
GM12249CEPH/UTAH PEDIGREE 1416B-LymphocyteFemaleCaucasian  1416
GM12264CEPH/UTAH PEDIGREE 1375B-LymphocyteMaleCaucasian  1375
GM12272CEPH/UTAH PEDIGREE 1418B-LymphocyteMaleCaucasian  1418
GM12273CEPH/UTAH PEDIGREE 1418B-LymphocyteFemaleCaucasian  1418
GM12274CEPH/UTAH PEDIGREE 1418B-LymphocyteMaleCaucasian  1418
GM12275CEPH/UTAH PEDIGREE 1418B-LymphocyteFemaleCaucasian  1418
GM12282CEPH/UTAH PEDIGREE 1421B-LymphocyteMaleCaucasian  1421
GM12283CEPH/UTAH PEDIGREE 1421B-LymphocyteFemaleCaucasian  1421
GM12286CEPH/UTAH PEDIGREE 1421B-LymphocyteMaleCaucasian  1421
GM12287CEPH/UTAH PEDIGREE 1421B-LymphocyteFemaleCaucasian  1421
GM12329CEPH/UTAH PEDIGREE 1328B-LymphocyteFemaleCaucasian  1328
GM12335CEPH/UTAH PEDIGREE 1330B-LymphocyteMaleCaucasian  1330
GM12336CEPH/UTAH PEDIGREE 1330B-LymphocyteFemaleCaucasian  1330
GM12340CEPH/UTAH PEDIGREE 1330B-LymphocyteMaleCaucasian  1330
GM12341CEPH/UTAH PEDIGREE 1330B-LymphocyteFemaleCaucasian  1330
GM12342CEPH/UTAH PEDIGREE 1330B-LymphocyteMaleCaucasian  1330
GM12343CEPH/UTAH PEDIGREE 1330B-LymphocyteFemaleCaucasian  1330
GM12344CEPH/UTAH PEDIGREE 13281B-LymphocyteMaleCaucasian  13281
GM12347CEPH/UTAH PEDIGREE 13281B-LymphocyteMaleCaucasian  13281
GM12348CEPH/UTAH PEDIGREE 13281B-LymphocyteFemaleCaucasian  13281
GM12375CEPH/UTAH PEDIGREE 1353B-LymphocyteMaleCaucasian  1353
GM12376CEPH/UTAH PEDIGREE 1353B-LymphocyteFemaleCaucasian  1353
GM12383CEPH/UTAH PEDIGREE 1353B-LymphocyteFemaleCaucasian  1353
GM12386CEPH/UTAH PEDIGREE 1354B-LymphocyteFemaleCaucasian  1354
GM12399CEPH/UTAH PEDIGREE 1354B-LymphocyteMaleCaucasian  1354
GM12400CEPH/UTAH PEDIGREE 1354B-LymphocyteFemaleCaucasian  1354
GM12413CEPH/UTAH PEDIGREE 1355B-LymphocyteMaleCaucasian  1355
GM12414CEPH/UTAH PEDIGREE 1355B-LymphocyteFemaleCaucasian  1355
GM12485CEPH/UTAH PEDIGREE 1355B-LymphocyteMaleCaucasian  1355
GM12489CEPH/UTAH PEDIGREE 1353B-LymphocyteFemaleCaucasian  1353
GM12546CEPH/UTAH PEDIGREE 1353B-LymphocyteMaleCaucasian  1353
GM12707CEPH/UTAH PEDIGREE 1358B-LymphocyteMaleCaucasian  1358
GM12708CEPH/UTAH PEDIGREE 1358B-LymphocyteFemaleCaucasian  1358
GM12716CEPH/UTAH PEDIGREE 1358B-LymphocyteMaleCaucasian  1358
GM12717CEPH/UTAH PEDIGREE 1358B-LymphocyteFemaleCaucasian  1358
GM12718CEPH/UTAH PEDIGREE 1358B-LymphocyteFemaleCaucasian  1358
GM12739CEPH/UTAH PEDIGREE 1444B-LymphocyteMaleCaucasian  1444
GM12740CEPH/UTAH PEDIGREE 1444B-LymphocyteFemaleCaucasian  1444
GM12748CEPH/UTAH PEDIGREE 1444B-LymphocyteMaleCaucasian  1444
GM12749CEPH/UTAH PEDIGREE 1444B-LymphocyteFemaleCaucasian  1444
GM12750CEPH/UTAH PEDIGREE 1444B-LymphocyteMaleCaucasian  1444
GM12751CEPH/UTAH PEDIGREE 1444B-LymphocyteFemaleCaucasian  1444
GM12752CEPH/UTAH PEDIGREE 1447B-LymphocyteMaleCaucasian  1447
GM12753CEPH/UTAH PEDIGREE 1447B-LymphocyteFemaleCaucasian  1447
GM12760CEPH/UTAH PEDIGREE 1447B-LymphocyteMaleCaucasian  1447
GM12761CEPH/UTAH PEDIGREE 1447B-LymphocyteFemaleCaucasian  1447
GM12762CEPH/UTAH PEDIGREE 1447B-LymphocyteMaleCaucasian  1447
GM12763CEPH/UTAH PEDIGREE 1447B-LymphocyteFemaleCaucasian  1447
GM12766CEPH/UTAH PEDIGREE 1451B-LymphocyteMaleCaucasian  1451
GM12767CEPH/UTAH PEDIGREE 1451B-LymphocyteFemaleCaucasian  1451
GM12775CEPH/UTAH PEDIGREE 1451B-LymphocyteMaleCaucasian  1451
GM12776CEPH/UTAH PEDIGREE 1451B-LymphocyteFemaleCaucasian  1451
GM12777CEPH/UTAH PEDIGREE 1451B-LymphocyteMaleCaucasian  1451
GM12778CEPH/UTAH PEDIGREE 1451B-LymphocyteFemaleCaucasian  1451
GM12801CEPH/UTAH PEDIGREE 1454B-LymphocyteMaleCaucasian  1454
GM12802CEPH/UTAH PEDIGREE 1454B-LymphocyteFemaleCaucasian  1454
GM12812CEPH/UTAH PEDIGREE 1454B-LymphocyteMaleCaucasian  1454
GM12813CEPH/UTAH PEDIGREE 1454B-LymphocyteFemaleCaucasian  1454
GM12814CEPH/UTAH PEDIGREE 1454B-LymphocyteMaleCaucasian  1454
GM12815CEPH/UTAH PEDIGREE 1454B-LymphocyteFemaleCaucasian  1454
GM12817CEPH/UTAH PEDIGREE 1456B-LymphocyteMaleCaucasian  1456
GM12818CEPH/UTAH PEDIGREE 1456B-LymphocyteFemaleCaucasian  1456
GM12827CEPH/UTAH PEDIGREE 1456B-LymphocyteMaleCaucasian  1456
GM12828CEPH/UTAH PEDIGREE 1456B-LymphocyteFemaleCaucasian  1456
GM12829CEPH/UTAH PEDIGREE 1456B-LymphocyteMaleCaucasian  1456
GM12830CEPH/UTAH PEDIGREE 1456B-LymphocyteFemaleCaucasian  1456
GM12832CEPH/UTAH PEDIGREE 1458B-LymphocyteFemaleCaucasian  1458
GM12842CEPH/UTAH PEDIGREE 1458B-LymphocyteMaleCaucasian  1458
GM12843CEPH/UTAH PEDIGREE 1458B-LymphocyteFemaleCaucasian  1458
GM12864CEPH/UTAH PEDIGREE 1459B-LymphocyteMaleCaucasian  1459
GM12865CEPH/UTAH PEDIGREE 1459B-LymphocyteFemaleCaucasian  1459
GM12872CEPH/UTAH PEDIGREE 1459B-LymphocyteMaleCaucasian  1459
GM12873CEPH/UTAH PEDIGREE 1459B-LymphocyteFemaleCaucasian  1459
GM12874CEPH/UTAH PEDIGREE 1459B-LymphocyteMaleCaucasian  1459
GM12875CEPH/UTAH PEDIGREE 1459B-LymphocyteFemaleCaucasian  1459
GM12877CEPH/UTAH PEDIGREE 1463B-LymphocyteMaleCaucasian  1463
GM12878CEPH/UTAH PEDIGREE 1463B-LymphocyteFemaleCaucasian  1463
GM12889CEPH/UTAH PEDIGREE 1463B-LymphocyteMaleCaucasian  1463
GM12890CEPH/UTAH PEDIGREE 1463B-LymphocyteFemaleCaucasian  1463
GM12891CEPH/UTAH PEDIGREE 1463B-LymphocyteMaleCaucasian  1463
GM12892CEPH/UTAH PEDIGREE 1463B-LymphocyteFemaleCaucasian  1463

Personal Genome Project Samples Consented for Public Posting of PIGI

Catalog IDDescriptionCell TypeGenderAgeRaceAssociated Specimens
GM23338APPARENTLY HEALTHY NON-FETAL TISSUEStem cellMale55Caucasian2980
GM20431PERSONAL GENOME PROJECTB-LymphocyteMale51Caucasian2980
GM21070PERSONAL GENOME PROJECTB-LymphocyteMale44Caucasian 
GM21660PERSONAL GENOME PROJECTB-LymphocyteFemale65Caucasian 
GM21677PERSONAL GENOME PROJECTB-LymphocyteMale42Caucasian2981
GM21687PERSONAL GENOME PROJECTB-LymphocyteMale52Caucasian2982
GM21730PERSONAL GENOME PROJECTB-LymphocyteMale52Caucasian 
GM21731PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM21781PERSONAL GENOME PROJECTB-LymphocyteMale58Caucasian 
GM21833PERSONAL GENOME PROJECTB-LymphocyteFemale46Caucasian2983
GM21846PERSONAL GENOME PROJECTB-LymphocyteMale49Black 
GM23248PERSONAL GENOME PROJECTFibroblastMale55Caucasian2980
GM23249PERSONAL GENOME PROJECTFibroblastMale44Caucasian2981
GM23250PERSONAL GENOME PROJECTFibroblastMale44Caucasian2982
GM23251PERSONAL GENOME PROJECTFibroblastFemale50Caucasian2983
GM23843PERSONAL GENOME PROJECTB-LymphocyteMale54Caucasian 
GM24049PERSONAL GENOME PROJECTB-LymphocyteMale30Caucasian3083
GM24050PERSONAL GENOME PROJECTB-LymphocyteFemale48Caucasian3084
GM24067PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24068PERSONAL GENOME PROJECTB-LymphocyteFemale55Caucasian 
GM24070PERSONAL GENOME PROJECTB-LymphocyteMale35More than one race 
GM24071PERSONAL GENOME PROJECTB-LymphocyteFemale30Caucasian3151
GM24072PERSONAL GENOME PROJECTB-LymphocyteMale50Caucasian 
GM24073PERSONAL GENOME PROJECTB-LymphocyteMale38Caucasian 
GM24074PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24075PERSONAL GENOME PROJECTB-LymphocyteMale65Caucasian 
GM24076PERSONAL GENOME PROJECTB-LymphocyteFemale46Caucasian 
GM24077PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24078PERSONAL GENOME PROJECTB-LymphocyteFemale70Caucasian 
GM24079PERSONAL GENOME PROJECTB-LymphocyteMale64Caucasian 
GM24080PERSONAL GENOME PROJECTB-LymphocyteFemale64Caucasian 
GM24081PERSONAL GENOME PROJECTB-LymphocyteFemale25Caucasian 
GM24083PERSONAL GENOME PROJECTB-LymphocyteMale41Hispanic/Latino 
GM24084PERSONAL GENOME PROJECTB-LymphocyteFemale65Caucasian 
GM24085PERSONAL GENOME PROJECTB-LymphocyteMale41Caucasian 
GM24086PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24087PERSONAL GENOME PROJECTB-LymphocyteMale53Caucasian 
GM24088PERSONAL GENOME PROJECTB-LymphocyteMale29Caucasian 
GM24090PERSONAL GENOME PROJECTB-LymphocyteMale41Caucasian 
GM24091PERSONAL GENOME PROJECTB-LymphocyteMale43Caucasian 
GM24093PERSONAL GENOME PROJECTB-LymphocyteMale39Caucasian 
GM24094PERSONAL GENOME PROJECTB-LymphocyteMale39Caucasian 
GM24095PERSONAL GENOME PROJECTB-LymphocyteFemale30Asian, Other 
GM24096PERSONAL GENOME PROJECTB-LymphocyteMale25Asian, Other 
GM24097PERSONAL GENOME PROJECTB-LymphocyteMale58Caucasian 
GM24098PERSONAL GENOME PROJECTB-LymphocyteMale37Caucasian 
GM24099PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24101PERSONAL GENOME PROJECTB-LymphocyteFemale39Caucasian 
GM24102PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian3153
GM24103PERSONAL GENOME PROJECTB-LymphocyteMale25More than one race 
GM24104PERSONAL GENOME PROJECTB-LymphocyteFemale76Caucasian 
GM24105PERSONAL GENOME PROJECTB-LymphocyteMale49Caucasian 
GM24106PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24107PERSONAL GENOME PROJECTB-LymphocyteFemale40Caucasian 
GM24108PERSONAL GENOME PROJECTB-LymphocyteMale30Caucasian 
GM24109PERSONAL GENOME PROJECTB-LymphocyteFemale75Caucasian 
GM24110PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian 
GM24111PERSONAL GENOME PROJECTB-LymphocyteMale29Caucasian 
GM24112PERSONAL GENOME PROJECTB-LymphocyteFemale56Hispanic/Latino 
GM24114PERSONAL GENOME PROJECTB-LymphocyteMale80Caucasian 
GM24115PERSONAL GENOME PROJECTB-LymphocyteFemale34Caucasian 
GM24116PERSONAL GENOME PROJECTB-LymphocyteMale26Caucasian 
GM24117PERSONAL GENOME PROJECTB-LymphocyteMale61Caucasian 
GM24118PERSONAL GENOME PROJECTB-LymphocyteMale45Caucasian 
GM24119PERSONAL GENOME PROJECTB-LymphocyteMale40Not Reported 
GM24120PERSONAL GENOME PROJECTB-LymphocyteMale36Caucasian 
GM24121PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24122PERSONAL GENOME PROJECTB-LymphocyteFemale49Caucasian 
GM24123PERSONAL GENOME PROJECTB-LymphocyteFemale38Caucasian 
GM24124PERSONAL GENOME PROJECTB-LymphocyteMale41Caucasian 
GM24125PERSONAL GENOME PROJECTB-LymphocyteFemale41Caucasian 
GM24126PERSONAL GENOME PROJECTB-LymphocyteMale54Caucasian 
GM24129PERSONAL GENOME PROJECTB-LymphocyteMale52Caucasian 
GM24130PERSONAL GENOME PROJECTB-LymphocyteMale65More than one race3154
GM24131PERSONAL GENOME PROJECTB-LymphocyteMale40Caucasian 
GM24132PERSONAL GENOME PROJECTB-LymphocyteFemale35Caucasian 
GM24133PERSONAL GENOME PROJECTB-LymphocyteMale56Caucasian 
GM24134PERSONAL GENOME PROJECTB-LymphocyteMale37Caucasian 
GM24135PERSONAL GENOME PROJECTB-LymphocyteMale49Caucasian 
GM24136PERSONAL GENOME PROJECTB-LymphocyteFemale23Caucasian 
GM24137PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian 
GM24139PERSONAL GENOME PROJECTB-LymphocyteFemale Not Reported 
GM24141PERSONAL GENOME PROJECTB-LymphocyteMale51Caucasian 
GM24142PERSONAL GENOME PROJECTB-LymphocyteFemale61Caucasian 
GM24143PERSONAL GENOME PROJECTB-LymphocyteFemale74Caucasian3140
GM24144PERSONAL GENOME PROJECTB-LymphocyteFemale35Caucasian 
GM24145PERSONAL GENOME PROJECTB-LymphocyteMale56Caucasian 
GM24146PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian 
GM24147PERSONAL GENOME PROJECTB-LymphocyteMale52Caucasian 
GM24148PERSONAL GENOME PROJECTB-LymphocyteMale46Caucasian 
GM24149PERSONAL GENOME PROJECTB-LymphocyteMale90Caucasian3140
GM24150PERSONAL GENOME PROJECTB-LymphocyteMale29Caucasian 
GM24151PERSONAL GENOME PROJECTB-LymphocyteMale45Caucasian 
GM24152PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24153PERSONAL GENOME PROJECTB-LymphocyteMale45Caucasian 
GM24154PERSONAL GENOME PROJECTB-LymphocyteMale27Caucasian 
GM24155PERSONAL GENOME PROJECTB-LymphocyteMale43Caucasian 
GM24157PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24158PERSONAL GENOME PROJECTB-LymphocyteFemale58Caucasian 
GM24159PERSONAL GENOME PROJECTB-LymphocyteFemale35Caucasian 
GM24160PERSONAL GENOME PROJECTB-LymphocyteMale75Caucasian 
GM24161PERSONAL GENOME PROJECTB-LymphocyteFemale55Caucasian 
GM24162PERSONAL GENOME PROJECTB-LymphocyteMale29Caucasian 
GM24164PERSONAL GENOME PROJECTB-LymphocyteMale36Caucasian 
GM24165PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24166PERSONAL GENOME PROJECTB-LymphocyteMale59  
GM24167PERSONAL GENOME PROJECTB-LymphocyteMale   
GM24168PERSONAL GENOME PROJECTB-LymphocyteFemale55Caucasian 
GM24169PERSONAL GENOME PROJECTB-LymphocyteMale55Caucasian 
GM24170PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24171PERSONAL GENOME PROJECTB-LymphocyteMale29Caucasian 
GM24172PERSONAL GENOME PROJECTB-LymphocyteMale39Caucasian 
GM24173PERSONAL GENOME PROJECTB-LymphocyteMale Not Reported 
GM24176PERSONAL GENOME PROJECTB-LymphocyteFemale54Caucasian 
GM24385PERSONAL GENOME PROJECTB-LymphocyteMale45Caucasian3140
GM24594PERSONAL GENOME PROJECTB-LymphocyteMale31Caucasian 
GM24595PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian 
GM24598PERSONAL GENOME PROJECTB-LymphocyteMale31Caucasian 
GM24599PERSONAL GENOME PROJECTB-LymphocyteFemale45Caucasian 
GM24601PERSONAL GENOME PROJECTB-LymphocyteFemale30Caucasian 
GM24602PERSONAL GENOME PROJECTB-LymphocyteMale69Caucasian 
GM24603PERSONAL GENOME PROJECTB-LymphocyteFemale25Caucasian3151
GM24604PERSONAL GENOME PROJECTB-LymphocyteMale25Hispanic/Latino 
GM24605PERSONAL GENOME PROJECTB-LymphocyteFemale30Caucasian 
GM24606PERSONAL GENOME PROJECTB-LymphocyteMale25Asian, Other 
GM24607PERSONAL GENOME PROJECTB-LymphocyteMale45Caucasian 
GM24608PERSONAL GENOME PROJECTB-LymphocyteMale35Caucasian 
GM24611PERSONAL GENOME PROJECTB-LymphocyteFemale35More than one race 
GM24612PERSONAL GENOME PROJECTB-LymphocyteFemale57Caucasian 
GM24613PERSONAL GENOME PROJECTB-LymphocyteMale28Caucasian 
GM24614PERSONAL GENOME PROJECTB-LymphocyteMale25Caucasian 
GM24615PERSONAL GENOME PROJECTB-LymphocyteFemale25Caucasian 
GM24617PERSONAL GENOME PROJECTB-LymphocyteMale62Caucasian3152
GM24631PERSONAL GENOME PROJECTB-LymphocyteMale33Asian, Other3150
GM24694PERSONAL GENOME PROJECTB-LymphocyteMale64Chinese3150
GM24695PERSONAL GENOME PROJECTB-LymphocyteFemale63Chinese3150

Additional Samples Consented for Public Posting of PIGI

Catalog IDDescriptionCell TypeGenderAgeRaceGeneMutationAssociated Specimens
GM25255ANENCEPHALYFibroblastMale18Caucasian   
GM25522APPARENTLY HEALTHY INDIVIDUALB-LymphocyteFemale37Caucasian  3247
GM24529ATAXIA AND CEREBELLAR HYPOPLASIAFibroblastFemale14CaucasianNUBPL NUBPc.311T>C
c.815-27T>C
3195
GM24343BETHLEM MYOPATHYB-LymphocyteMale58CaucasianCOL6AASP563GLY3014
GM24406BETHLEM MYOPATHYFibroblastFemale9CaucasianCOL6ADel GT splice donor site 
GM23800CENTRONUCLEAR MYOPATHYB-LymphocyteMale30CaucasianRYR1 RYRARG109TRP
ARG2241
3072
GM25382CHOROIDEREMIA; CHMB-LymphocyteMale20CaucasianCHM CHM CHARG270TER
c.116+215insCCTTT
c.116+80C>T
3210
GM25383CHOROIDEREMIA; CHMFibroblastMale20CaucasianCHM CHM CHARG270TER
c.116+215insCCTTT
c.116+80C>T
3210
GM25385CHOROIDEREMIA; CHMB-LymphocyteMale61CaucasianCHARG270TER3211
GM25386CHOROIDEREMIA; CHMFibroblastMale61CaucasianCHARG270TER3211
GM25392CHOROIDEREMIA; CHMB-LymphocyteMale57CaucasianCHM CHc.189+1G>T
ALA117ALA
3214
GM25393CHOROIDEREMIA; CHMFibroblastMale57CaucasianCHM CHc.189+1G>T
ALA117ALA
3214
GM25394CHOROIDEREMIA; CHMB-LymphocyteMale26CaucasianCHM CHc.887 C>T
295 A>T
 
GM25399CHOROIDEREMIA; CHMB-LymphocyteMale59CaucasianCHM CHARG270TER
ALA117ALA
3211
GM25400CHOROIDEREMIA; CHMFibroblastMale59CaucasianCHM CHARG270TER
ALA117ALA
3211
GM25420CHOROIDEREMIA; CHMB-LymphocyteMale48CaucasianCHSER190TER3217
GM25421CHOROIDEREMIA; CHMFibroblastMale48CaucasianCHSER190TER3217
GM25422CHOROIDEREMIA; CHMB-LymphocyteMale48CaucasianCHM CHALA117ALA
Thr175 del2acAG
3218
GM25495CHOROIDEREMIA; CHMB-LymphocyteMale21CaucasianCHEX6_8del3241
GM25496CHOROIDEREMIA; CHMB-LymphocyteFemale53Caucasian  3241
GM25517CHOROIDEREMIA; CHMB-LymphocyteMale57Caucasian   
GM25571CHOROIDEREMIA; CHMFibroblastMale49CaucasianCHARG253TER 
GM25965CHOROIDEREMIA; CHMB-LymphocyteMale47CaucasianCHc.941dupG 
GM26036CHOROIDEREMIA; CHMFibroblastMale51CaucasianCHc.757C>T 
GM25429CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROMEB-LymphocyteMale6African American  3282
GM25402CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale2Caucasian  3229
GM25403CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale18Caucasian  3229
GM25404CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale33Caucasian  3229
GM25405CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale14Caucasian  3229
GM25406CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale56Caucasian  3229
GM25407CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale33Caucasian  3229
GM25408CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale27Caucasian  3229
GM25409CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale43Caucasian  3229
GM25410CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale59Caucasian  3229
GM25411CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale10Caucasian  3229
GM25412CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale14Caucasian  3229
GM25413CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale8Caucasian  3229
GM25415CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale26Caucasian  3230
GM25416CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale26Caucasian  3230
GM25417CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale5Caucasian  3230
GM25418CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale7Caucasian  3230
GM25419CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale7Caucasian  3230
GM25427CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale36Caucasian  3227
GM25433CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale47Caucasian  3227
GM25434CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale17Caucasian  3227
GM25435CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale52Caucasian  3227
GM25436CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale9Caucasian  3227
GM25437CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale14Caucasian  3227
GM25448CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale3Caucasian  3228
GM25449CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale2Caucasian  3228
GM25450CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale49Caucasian  3228
GM25451CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale51Caucasian  3228
GM25452CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale28Caucasian  3228
GM25453CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale47Caucasian  3228
GM25454CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale27Caucasian  3228
GM25482CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale3   3240
GM25483CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale8   3240
GM25484CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteMale7   3240
GM25485CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale29   3240
GM25544CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale25   3228
GM25982CHROMOSOME 16P12.1 DELETION SYNDROMEB-LymphocyteFemale49Caucasian  3240
GM25330CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale10CaucasianNGLY1 NGLY1 CACNA1GLN208TER
GLY310GLY
THR1354SER
3196
GM25331CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale7CaucasianNGLY1 NGLY1 CACNA1GLN208TER
GLY310GLY
THR1354SER
3196
GM25340CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale6CaucasianNGLY1 NGLYc.1891delC
ARG401TER
3199
GM25341CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale33CaucasianNGLYc.1891delC3199
GM25342CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale32CaucasianNGLYARG401TER3199
GM25343CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGFibroblastFemale7CaucasianNGLY1 NGLY1 CACNA1GLN208TER
GLY310GLY
THR1354SER
3196
GM25344CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGFibroblastMale10CaucasianNGLY1 NGLY1 CACNA1GLN208TER
GLY310GLY
THR1354SER
3196
GM25347CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale3CaucasianNGLY1 NGLYARG401TER
ARG401TER
3200
GM25348CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale37CaucasianNGLYARG401TER3200
GM25389CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale21CaucasianNGLY1 NGLYc.1370dupG, R458FsTER
c.1370dupG, R458FsTER
3213
GM25390CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale49CaucasianNGLYc.1370dupG, R458FsTER3213
GM25391CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale56CaucasianNGLYc.1370dupG, R458FsTER3213
GM25596CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale15CaucasianNGLY1 NGLYc.347C>G
c.881+5G>T
3259
GM25597CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteFemale48CaucasianNGLYc.347C>G3259
GM25598CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDGB-LymphocyteMale47CaucasianNGLYc.881+5G>T3259
GM25291DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDSB-LymphocyteMale4CaucasianSLC6A3 SLC6A3 SLC6A3 SLC6Ac.1408T>A
c.1408T>A
c.1409A>G
c.1409A>G
 
GM24365DUPLICATED CHROMOSOMEB-LymphocyteFemale45Caucasian  3124
GM24366DUPLICATED CHROMOSOMEB-LymphocyteFemale18Caucasian  3124
GM24367DUPLICATED CHROMOSOMEB-LymphocyteMale62Caucasian  3124
GM25431EPILEPSY, TYPE UNKNOWNFibroblastFemale9CaucasianGABRGPRO282SER3220
GM25432EPILEPSY, TYPE UNKNOWNFibroblastFemale40Caucasian  3220
GM23710EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2B-LymphocyteFemale10CaucasianCDKLDEL EX 17-183371
GM26095INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDB-LymphocyteMale45CaucasianHSPBc.515dupC (p.P173Sfs
43)
3328
GM26096INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDFibroblastMale45CaucasianHSPBc.515dupC (p.P173Sfs
43)
3328
GM26099INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDB-LymphocyteMale44Caucasian  3328
GM26100INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDB-LymphocyteFemale55Caucasian  3328
GM26579INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFDFibroblastMale66CaucasianHSPBc.515dupC (p.P173Sfs
43)
3328
GM25428MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1B-LymphocyteFemale5Caucasian   
GM25994MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9FibroblastFemale6CaucasianKIF1GLY484SER 
GM25952MENTAL RETARDATION, X-LINKED 102; MRX102FibroblastFemale10CaucasianDDX3c.1250 A>C3325
GM25953MENTAL RETARDATION, X-LINKED 102; MRX102FibroblastFemale43Caucasian  3325
GM25502MICROCEPHALY WITH CHORIORETINOPATHYFibroblastFemale2CaucasianTUBGCP6 TUBGCPc.5458T>G
c.5458T>G
3243
GM25503MICROCEPHALY WITH CHORIORETINOPATHYFibroblastMale5CaucasianTUBGCP6 TUBGCPc.5458T>G
c.5458T>G
3243
GM25504MICROCEPHALY WITH CHORIORETINOPATHYFibroblastMale34CaucasianTUBGCPc.5458T>G3243
GM25268MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE); MTDPS12B-LymphocyteFemale16CaucasianSLC25A4 SLC25Ac.523delC; p.Q175RfsX38
c.523delC; p.Q175RfsX38
 
GM24463MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1AB-LymphocyteMale3Caucasian   
GM24268MYOPATHY, CENTRONUCLEAR, 1; CNM1B-LymphocyteMale21CaucasianDynamin GLU368LYS3071
GM24392MYOTUBULAR MYOPATHY 1; MTM1B-LymphocyteFemale7Caucasian  3131
GM24417MYOTUBULAR MYOPATHY 1; MTM1B-LymphocyteFemale40Caucasian  3131
GM24418MYOTUBULAR MYOPATHY 1; MTM1B-LymphocyteMale35Caucasian  3131
GM24509MYOTUBULAR MYOPATHY 1; MTM1FibroblastMale1CaucasianMTMc.1180G>C; p.D394H 
GM25494NEMALINE MYOPATHY - TYPE UNKNOWNB-LymphocyteMale35More than one raceKLHL4c.1640G>A; p.Arg547His 
GM25146NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale42Caucasian  3164
GM25151NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale16CaucasianNEB NEc.3252_3255+3DELTGACGTA
del encompassing exon 77
3164
GM25160NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale41CaucasianNEc.24218 C>A3167
GM25161NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale7More than one raceNEB NEc.24218 C>A
c.13059+5G>A
3167
GM25172NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteMale4More than one raceNEB NEc.9619-2A>G
c.24473_24476dupAACA
3327
GM25173NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteMale11More than one raceNEB NEc.3255+1G>A
c.24654_24655delAG
 
GM25250NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale5CaucasianNEB NEARG2809

LEU8106
3179
GM25251NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2FibroblastFemale5CaucasianNEB NEARG2809

LEU8106
3179
GM25308NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2FibroblastMale2CaucasianNEB NEc.16984C>T
c.19568T>G
3350
GM25497NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteMale15CaucasianNEc.24500_24503dup3242
GM25498NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteFemale46CaucasianNEc.24500_24503dup3242
GM25853NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2B-LymphocyteMale7CaucasianNEB NEc.1152+1G>A
c.17013+1G>T
3278
GM25854NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2FibroblastMale7CaucasianNEB NEc.1152+1G>A
c.17013+1G>T
3278
GM26093NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2FibroblastMale6More than one raceNEB NEc.9619-2A>G
c.24473_24476dupAACA
3327
GM25335NEMALINE MYOPATHY 3; NEM3B-LymphocyteFemale6CaucasianACTAGLY253ASP3198
GM25336NEMALINE MYOPATHY 3; NEM3FibroblastFemale6CaucasianACTAGLY253ASP3198
GM26190NEMALINE MYOPATHY 3; NEM3B-LymphocyteFemale36Caucasian  3351
GM26191NEMALINE MYOPATHY 3; NEM3B-LymphocyteMale38Caucasian  3351
GM26267NEMALINE MYOPATHY 3; NEM3B-LymphocyteMale3CaucasianACTA1 ACTAc.285_286delGC
c.644A>T
3351
GM25438NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastFemale3AsianNPCSER738
3221
GM25439NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastFemale2AsianNPC1 NPC1 TREXSER738

PRO1080ILEfsX18
PRO118ARG
3221
GM25440NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastFemale65Asian  3221
GM25441NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastFemale67Asian  3221
GM25442NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastMale36AsianNPCPRO1080ILEfsX183221
GM25444NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastMale69Asian  3221
GM25445NIEMANN-PICK DISEASE, TYPE C1; NPC1FibroblastMale2AsianNPCPRO1080ILEfsX183221
GM24383PFEIFFER SYNDROMEB-LymphocyteFemale1Caucasian   
GM25987PITT-HOPKINS SYNDROME; PTHSB-LymphocyteFemale2CaucasianTCFARG580TRP; c.1738C>T3312
GM25988PITT-HOPKINS SYNDROME; PTHSB-LymphocyteFemale37Caucasian  3312
GM26037PITT-HOPKINS SYNDROME; PTHSB-LymphocyteMale11CaucasianTCFARG174TER; c.520C>T3317
GM26038PITT-HOPKINS SYNDROME; PTHSFibroblastMale11CaucasianTCFARG174TER; c.520C>T3317
GM26063PITT-HOPKINS SYNDROME; PTHSB-LymphocyteFemale3CaucasianTCFArg262ProfsX3 (c.784-785insCA) 
GM23053POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale4Caucasian  2920
GM23054POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale40Caucasian  2920
GM23055POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale43Caucasian  2920
GM25576POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale11Caucasian  2920
GM25577POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale8Caucasian  3253
GM25578POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale35Caucasian  3253
GM25579POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale34Caucasian  3253
GM25580POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale17CaucasianACCNDel Exon13254
GM25584POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale10Caucasian  3256
GM25585POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale5Caucasian  3255
GM25586POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale39Caucasian  3255
GM25587POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale9Caucasian  3257
GM25588POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale8Hispanic/Latino  3258
GM25590POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale49Caucasian  3256
GM25591POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale46Caucasian  3256
GM25592POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale22Caucasian  3254
GM25593POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteFemale72Caucasian  3255
GM25594POTOCKI-LUPSKI SYNDROME; PTLSB-LymphocyteMale76Caucasian  3255
GM25930POTOCKI-LUPSKI SYNDROME; PTLSFibroblastMale10Caucasian  3301
GM23425PRADER-WILLI SYNDROME; PWSB-LymphocyteMale7CaucasianSNRPDEL MATERNAL EXON ALPHA3313
GM24407PRADER-WILLI SYNDROME; PWSB-LymphocyteMale7Caucasian   
GM24696PRADER-WILLI SYNDROME; PWSB-LymphocyteMale5Caucasian   
GM25243PRADER-WILLI SYNDROME; PWSB-LymphocyteFemale5Asian   
GM25262PRADER-WILLI SYNDROME; PWSB-LymphocyteMale36Caucasian   
GM25334PRADER-WILLI SYNDROME; PWSB-LymphocyteMale18Caucasian   
GM26197RETT SYNDROME, CONGENITAL VARIANTB-LymphocyteMale3CaucasianFOXGc.217C>T (Q73X)3359
GM26198RETT SYNDROME, CONGENITAL VARIANTB-LymphocyteFemale37Caucasian  3359
GM25455RETT SYNDROME; RTTB-LymphocyteFemale18CaucasianMECPc.62+1delGT3222
GM25456RETT SYNDROME; RTTFibroblastFemale18CaucasianMECPc.62+1delGT3222
GM24271SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale56Caucasian  3105
GM24273SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale29Caucasian  3106
GM24274SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale57Caucasian  3107
GM24276SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale56Caucasian  3107
GM24277SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale52Caucasian  3108
GM24278SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale23Caucasian  3108
GM24279SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale51Caucasian  3108
GM24280SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale54Caucasian  3109
GM24281SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale27Caucasian  3109
GM24283SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale8Caucasian  3110
GM24284SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale34Caucasian  3110
GM24286SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale27Caucasian  3111
GM24287SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale52Caucasian  3111
GM24288SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale8Caucasian  3112
GM24289SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale41African American  3112
GM24290SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale40Caucasian  3112
GM24291SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale6Caucasian  3113
GM24292SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale38Caucasian  3113
GM24293SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale43Caucasian  3113
GM24294SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale52Caucasian  3114
GM24295SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale52Caucasian  3114
GM24296SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale20Caucasian  3115
GM24297SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale52Caucasian  3115
GM24298SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale51Caucasian  3115
GM24299SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale51Caucasian  3116
GM24300SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale14Asian, Other  3149
GM24301SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale37Caucasian  3117
GM24302SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale17Caucasian  3117
GM24303SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale19Caucasian   
GM24304SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale15Caucasian  3118
GM24305SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale47Caucasian  3118
GM24306SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale46Caucasian  3118
GM24308SMITH-MAGENIS SYNDROME; SMSFibroblastFemale35Caucasian  3105
GM24309SMITH-MAGENIS SYNDROME; SMSFibroblastFemale29Caucasian  3106
GM24310SMITH-MAGENIS SYNDROME; SMSFibroblastMale4Caucasian  3106
GM24311SMITH-MAGENIS SYNDROME; SMSFibroblastFemale23Caucasian  3108
GM24312SMITH-MAGENIS SYNDROME; SMSFibroblastFemale8Caucasian  3110
GM24313SMITH-MAGENIS SYNDROME; SMSFibroblastMale27Caucasian  3111
GM24314SMITH-MAGENIS SYNDROME; SMSFibroblastMale14Asian, Other  3149
GM24315SMITH-MAGENIS SYNDROME; SMSFibroblastFemale8More than one race  3112
GM24322SMITH-MAGENIS SYNDROME; SMSB-LymphocyteMale25Caucasian  3114
GM24357SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale22Caucasian  3107
GM24527SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale35Caucasian  3143
GM24538SMITH-MAGENIS SYNDROME; SMSB-LymphocyteFemale68Caucasian  3143
GM26074TUBEROUS SCLEROSIS, TYPE UNKNOWNFibroblastFemale2Caucasian   
GM24465TURNER SYNDROMEB-LymphocyteFemale48Caucasian  3077
GM24592TURNER SYNDROMEB-LymphocyteFemale14Caucasian   
GM24593TURNER SYNDROMEB-LymphocyteFemale15Other   
GM25294TURNER SYNDROMEB-LymphocyteFemale6Caucasian   
GM24391ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1B-LymphocyteFemale10AsianCOL6A3 COL6Ac.5044delC
c.7066G>T
3320
GM24415ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1B-LymphocyteMale13CaucasianCOL6AGLY311ASP 
GM24646USHER SYNDROME, TYPE IC; USH1CFibroblastMale31CaucasianUSH1C USH1238_239insC (R80fs)
238_239insC (R80fs)
3193
GM24589USHER SYNDROME, TYPE IIC; USH2CFibroblastFemale30CaucasianGPR98 GPR9c.8801C>A
c.14973-2A>G
3147
GM24590USHER SYNDROME, TYPE IIC; USH2CFibroblastMale54CaucasianGPR9c.8801C>A3147
GM24591USHER SYNDROME, TYPE IIC; USH2CFibroblastFemale53CaucasianGPR9c.14973-2A>G3147
GM26249VICI SYNDROME; VICISB-LymphocyteMale10CaucasianEPGp.Q336R; c.1007A>G3361
GM26250VICI SYNDROME; VICISB-LymphocyteMale51Caucasian  3361
GM26251VICI SYNDROME; VICISB-LymphocyteFemale46Caucasian  3361
GM26636VICI SYNDROME; VICISFibroblastMale8CaucasianEPGp.Q336R; c.1007A>G3361