| Catalog ID | Diagnosis | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
| GM12224 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | White | 2 YR | Male | Yes | 1498 |
| GM03432 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | Fibroblast | White | 4 MO | Female | Yes | |
| GM23684 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | White | 5 YR | Female | Yes | |
| GM04311 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | Fibroblast | White | 18 YR | Female | Yes | |
| GM12222 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | White | 33 YR | Female | | 1498 |
| GM23882 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | Asian, Other | 36 YR | Female | Yes | |
| GM12223 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | White | 38 YR | Male | | 1498 |
| GM24354 | CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | B-Lymphocyte | White | 39 YR | Female | Yes | |