| Catalog ID | Description | Sex | Age | Race | Affected | Family Member | Relationship to Proband | Cell Type | Family |
| GM28379 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Female | 18 YR | White | Yes | 1 | proband | Fibroblast | NIGMS00018 |
| GM28756 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Female | 18 YR | White | Yes | 1 | proband | B-Lymphocyte | NIGMS00018 |
| GM28757 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Male | 10 YR | White | Yes | 2 | brother | B-Lymphocyte | NIGMS00018 |
| GM28758 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Male | 49 YR | White | No | 3 | father | B-Lymphocyte | NIGMS00018 |
| GM28759 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Female | 46 YR | White | No | 4 | mother | B-Lymphocyte | NIGMS00018 |
| GM28936 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | Female | 18 YR | White | Yes | 1 | proband | Stem cell | NIGMS00018 |