Repeat expansion diseases
TOP > Repeat expansion diseases > EPI20EL2/HPS3911
Clone name | EPI20EL2/HPS3911 |
---|---|
Name of disease | Benign adult familial myoclonus epilepsy (BAFME) |
Age at time of collection | 15 |
Sex | M |
Somatic cell | PBMC |
Genome information | SAMD12 repeat expansion |
Cellular information | episomal vectors (SOX2, KLF4, OCT4, L-MYC, LIN28, dominant negative p53) |
Clinical information | ‐ |