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| Catalog ID | Diagnosis | Cell Type | Race | Age | Sex | Affected | Family |
| GM00711 | THANATOPHORIC DYSPLASIA; TD | Fibroblast | White | 1 DA | Male | Yes | 182 |
| GM00712 | THANATOPHORIC DYSPLASIA; TD | Fibroblast | White | 1 DA | Male | Yes | 182 |
| GM00713 | THANATOPHORIC DYSPLASIA; TD | Fibroblast | White | 1 DA | Male | Yes | 182 |
| GM00714 | THANATOPHORIC DYSPLASIA; TD | Fibroblast | White | 1 DA | Male | Yes | 182 |
| GM00740 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 | Fibroblast | White | 1 YR | Female | Yes | |
| GM01422 | THANATOPHORIC DYSPLASIA; TD | Fibroblast | Black/African American | 2 WK | Female | Yes | |
| GM01571 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | Black/African American | 20 FW | Male | Yes | 371 |
| GM01671 | CARTILAGE-HAIR HYPOPLASIA; CHH | Fibroblast | | 17 YR | Male | Yes | |
| GM01737 | CAMPOMELIC DYSPLASIA | Fibroblast | White | 9 DA | Female | Yes | |
| GM02437 | DYGGVE-MELCHIOR-CLAUSEN DISEASE | Fibroblast | | | Female | Yes | |
| GM03127 | PSEUDOACHONDROPLASTIC DYSPLASIA | Fibroblast | | 3 YR | Female | Yes | |
| GM03191 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | 30 YR | Male | | 509 |
| GM03192 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | 25 YR | Female | | 509 |
| GM03327 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | 25 YR | Male | | 604 |
| GM03328 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | | Female | | 604 |
| GM03336 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Amniotic fluid-derived cell line | White | 20 FW | Female | Yes | 604 |
| GM03459 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | 5 MO | Male | Yes | |
| GM03502 | HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510 | Fibroblast | White | 20 FW | Female | Yes | 604 |
| GM03521 | ASPHYXIATING THORACIC DYSTROPHY; ATD | Fibroblast | White | 2 YR | Female | Yes | |
| GM03625 | CARTILAGE-HAIR HYPOPLASIA; CHH | Fibroblast | White | 38 YR | Female | Yes | |