Catalog ID | Diagnosis | Allele 1 | Allele 2 | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
GM16195 | NIEMANN-PICK DISEASE, TYPE A | | | Fibroblast | White | | Male | Yes | 3449 |
GM27463 | NIEMANN-PICK DISEASE, TYPE A | | | Stem cell | White | | Male | Yes | 3449 |
GM00370 | NIEMANN-PICK DISEASE, TYPE A | No Mutation Detected | No Mutation Detected | Fibroblast | White | 1 YR | Female | Yes | |
GM00406 | NIEMANN-PICK DISEASE, TYPE A | No Mutation Detected | No Mutation Detected | Fibroblast | White | 2 YR | Female | Yes | |
GM13205 | NIEMANN-PICK DISEASE, TYPE A | | | Fibroblast | Not Reported | 2 YR | Female | Yes | 3450 |
GM27464 | NIEMANN-PICK DISEASE, TYPE A | | | Stem cell | Not Reported | 2 YR | Female | Yes | 3450 |
GM00112 | NIEMANN-PICK DISEASE, TYPE A | | | Fibroblast | White | 10 MO | Male | Yes | |
GM03252 | NIEMANN-PICK DISEASE, TYPE A | | | Fibroblast | White | 21 FW | Female | Yes | |
GM00559 | NIEMANN-PICK DISEASE, TYPE A | | | Fibroblast | White | 25 YR | Female | No | |