Catalog ID | Description | Sex | Age | Race | Affected | Family Member | Relationship to Proband | Cell Type | Family |
GM27863 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 4 YR | White | Yes | 1 | proband | B-Lymphocyte | 3466 |
GM27874 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 4 YR | White | Yes | 1 | proband | Fibroblast | 3466 |
GM28768 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Female | 41 YR | White | No | 2 | mother | B-Lymphocyte | 3466 |
GM28769 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 45 YR | White | No | 3 | father | B-Lymphocyte | 3466 |
GM28937 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 4 YR | White | Yes | 1 | proband | Stem cell | 3466 |