Gene Sample List
 
Please click on the Excel icon at the upper right to obtain an excel file of the detailed Clinical Data Elements (phenotypic characterizations) for these samples.
 
Records Return:  (3) Show
 
Catalog IDDescriptionAllele 1Allele 2Cell TypeSexAgeRaceAffected
GM17912NIEMANN-PICK DISEASE, TYPE C1; NPC1  FibroblastFemale CaucasianYes
GM18420NIEMANN-PICK DISEASE, TYPE C1; NPC1  FibroblastFemale  Yes
GM23154NIEMANN-PICK DISEASE, TYPE C1; NPC1196 B-LymphocyteMale12 YRCaucasianYes