|
| Catalog ID | Diagnosis | Cell Type | Race | Age | Sex | Affected | Family |
| GM00107 | FABRY DISEASE | Fibroblast | | 10 YR | Male | Yes | |
| GM00636 | FABRY DISEASE | Amniotic fluid-derived cell line | White | 18 FW | Male | Yes | |
| GM00881 | FABRY DISEASE | Fibroblast | White | 17 YR | Male | Yes | |
| GM00882 | FABRY DISEASE | Fibroblast | White | 40 YR | Male | Yes | |
| GM02075 | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | Fibroblast | White | 1 YR | Female | Yes | |
| GM02430 | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | B-Lymphocyte | White | 55 YR | Female | No | 630 |
| GM02431 | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | B-Lymphocyte | White | 32 YR | Male | Yes | 630 |
| GM02432 | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | B-Lymphocyte | White | 28 YR | Female | No | 630 |
| GM02769 | FABRY DISEASE | Fibroblast | White | 18 YR | Male | Yes | 246 |
| GM02770 | FABRY DISEASE | Fibroblast | White | 19 YR | Male | No | 246 |
| GM02771 | FABRY DISEASE | Fibroblast | White | 42 YR | Female | | 246 |
| GM02772 | FABRY DISEASE | Fibroblast | White | 38 YR | Female | | 246 |
| GM02774 | FABRY DISEASE | Fibroblast | White | 47 YR | Female | | 246 |
| GM02775 | FABRY DISEASE | Fibroblast | White | 16 YR | Male | Yes | 246 |
| GM03365 | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | B-Lymphocyte | White | 27 YR | Male | Yes | |
| GM04391 | FABRY DISEASE | B-Lymphocyte | White | 41 YR | Male | Yes | |
| GM05241 | LEPRECHAUNISM | Fibroblast | White | 1 MO | Female | Yes | |
| GM05948 | BARDET-BIEDL SYNDROME, BBS | Fibroblast | White | 18 YR | Male | Yes | 891 |
| GM05949 | BARDET-BIEDL SYNDROME, BBS | Fibroblast | White | 50 YR | Female | | 891 |
| GM05950 | BARDET-BIEDL SYNDROME, BBS | Fibroblast | White | 19 YR | Male | Yes | 892 |