| Catalog ID | Diagnosis | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
| GM28472 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 3 YR | Female | Yes | NIGMS00002 |
| GM29095 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 7 YR | Female | Yes | |
| GM29345 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | Caucasian | 10 YR | Female | Yes | |
| GM28473 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 31 YR | Female | No | NIGMS00002 |
| GM28474 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 31 YR | Male | No | NIGMS00002 |