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Catalog ID | Diagnosis | Parent Line | Transformant | Gender | LULL | Age | Race | Biopsy Source | Affected Status | Gene(s) | Mutation(s) | Family and Associated Specimens | Certificate of Analysis | Protocol |
GM28559 | ALAGILLE SYNDROME 1; ALGS1 | GM11091 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 17 YR | White | Skin | Yes | JAG1 | C312X
| 1324 | CofA PDF | Protocol PDF |
GM24666 | ALZHEIMER DISEASE; AD | SAD 2.2 | Reprogrammed (Retroviral) | Male | IP ACADEMIA JAPAN | 83 YR | White | Skin | Yes | NQO1 NQO1 | c.559C>T (p.P187S) c.559C>T (p.P187S)
| 3234 | CofA PDF | Protocol PDF |
GM24675 | ALZHEIMER DISEASE; AD | APP 2.3 | Reprogrammed (Retroviral) | Female | IP ACADEMIA JAPAN | 60 YR | Not Reported | Skin | Yes | APP | Duplication
| 3236 | CofA PDF | Protocol PDF |
GM28249 | CANAVAN DISEASE | GM00059 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 1 YR | Not Reported | Skin | Yes | ASPA ASPA ASPA | ALA305GLU TYR231TER GLY176ASP
| 424 | CofA PDF | Protocol PDF |
GM28915 | CANCER OF THE BREAST, FAMILIAL; BCS | GM27953 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 55 YR | White | Blood | Yes | CHEK2 | c.190G>A (p.Glu64Lys)
| 3551 | CofA PDF | Protocol PDF |
GM29109 | CENTRAL CORE DISEASE OF MUSCLE | GM26186 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 61 YR | Other | Blood | Yes | RYR1 | ILE4898THR
| | CofA PDF | Protocol PDF |
GM27857 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | GM27448 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 4 YR | Asian | Skin | Yes | SLC6A8 | DEL EX10-11
| 3486 | CofA PDF | Protocol PDF |
GM28937 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | GM27863 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 4 YR | White | Blood | Yes | SLC6A8 | c.1222_1224DELTTC (p.F408del)
| 3466 | CofA PDF | Protocol PDF |
GM28936 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GM28756 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 18 YR | White | Blood | Yes | GAMT GAMT | c.299_c.311 dup13 c.233T>A
| NIGMS00018 | CofA PDF | Protocol PDF |
GM29115 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GM27892 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 3 YR | Asiatic Indian | Blood | Yes | GAMT | c.424_426delGAG (p.E142del)
| 3493 | CofA PDF | Protocol PDF |
GM28589 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 | GM27955 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | 18 YR | Asian | Blood | Yes | GATM GATM | IVS3+1G>T (c.484+1G>T) IVS3+1G>T (c.484+1G>T)
| | CofA PDF | Protocol PDF |
GM27177 | CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | GM20385 | Reprogrammed (Episomal) | Female | IP ACADEMIA JAPAN | 11 YR | Not Reported | | Yes | CLN2 CLN2 | IVS5AS, G>C, -1 IVS5-1G>A
| 3406 | CofA PDF | Protocol PDF |
GM27465 | CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | GM16485 | Reprogrammed (Sendai) | Female | Sendai-Cyto Tune | | Not Reported | Skin | Yes | CLN2 CLN2 | ARG208TER ARG127TER
| 3451 | CofA PDF | Protocol PDF |
GM28380 | CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | GM16486 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | | Not Reported | Skin | Yes | CLN2 CLN2 | IVS5AS, G>C, -1 ARG127GLN
| | CofA PDF | Protocol PDF |
GM26650 | CHOROIDEREMIA; CHM | GM25393 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 57 YR | White | Skin | Yes | CHM CHM | c.189+1G>T ALA117ALA
| 3214 | CofA PDF | Protocol PDF |
GM26663 | CHOROIDEREMIA; CHM | GM25383 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 20 YR | White | Skin | Yes | CHM CHM CHM | ARG270TER c.116+215insCCTTT c.116+80C>T
| 3210 | CofA PDF | Protocol PDF |
GM29277 | CHROMOSOME XP11.3 DELETION SYNDROME | GM29127 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 3 YR | White | Blood | Yes | MAOA MAOB PMP22 | COMPLETE DELETION COMPLETE DELETION COMPLETE DELETION
| NIGMS00058 | CofA PDF | Protocol PDF |
GM29310 | CHROMOSOME XP11.3 DELETION SYNDROME | GM29125 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 34 YR | White | Blood | No | | | NIGMS00058 | CofA PDF | Protocol PDF |
GM27381 | CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | GM25344 | Reprogrammed (Sendai) | Male | Sendai-Cyto Tune | 10 YR | White | Skin | Yes | NGLY1 NGLY1 CACNA1S | GLN208TER GLY310GLY THR1354SER
| 3196 | CofA PDF | Protocol PDF |
GM24683 | CYSTIC FIBROSIS; CF | GM01014 | Reprogrammed (Episomal) | Male | IP ACADEMIA JAPAN | 13 YR | White | Skin | Yes | CFTR CFTR | PHE508DEL PHE508DEL
| 93 | CofA PDF | Protocol PDF |