京都大学iPS細胞研究所 増殖分化機構研究部門 幹細胞医学分野

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Repeat expansion diseases

TOP > Repeat expansion diseases > EPI5EL3

Clone name EPI5EL3
Name of disease Benign adult familial myoclonus epilepsy (BAFME)
Age at time of collection 63
Sex F
Somatic cell PBMC
Genome information SAMD12 repeat expansion
Cellular information episomal vectors (SOX2, KLF4, OCT4, L-MYC, LIN28, dominant negative p53)
Clinical information