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| Catalog ID | Diagnosis | Allele 1 | Allele 2 | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
| GM23811 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 1 YR | Male | Yes | |
| GM09039 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 2 YR | Male | Yes | |
| GM23410 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | Hispanic/Latino | 2 YR | Female | Yes | |
| GM23827 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | | 2 YR | Female | Yes | |
| GM23455 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | Hispanic/Latino | 3 YR | Male | Yes | 3048 |
| GM23638 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 3 YR | Female | At Risk | |
| GM23924 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 3 YR | Male | At Risk | |
| GM24047 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 3 YR | Female | At Risk | |
| GM23671 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | More than one race | 4 YR | Female | Yes | |
| GM23725 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 5 YR | Female | At Risk | |
| GM24389 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 5 YR | Male | Yes | |
| GM06902 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | Fibroblast | White | 6 YR | Male | Yes | |
| GM23685 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | Black/African American | 6 YR | Male | Yes | |
| GM23743 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 6 YR | Male | Yes | |
| GM24054 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 6 YR | Male | Yes | |
| GM12604 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | Fibroblast | White | 7 YR | Female | Yes | |
| GM23441 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 7 YR | Female | Yes | |
| GM23439 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | Hispanic/Latino | 8 YR | Female | No | |
| GM23683 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 8 YR | Female | Yes | |
| GM23724 | ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | | | B-Lymphocyte | White | 8 YR | Female | Yes | |