Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A

[摘要] SCN8A is linked to early infantile epileptic encephalopathy type 13 (EIEE13). We generate a human induced pluripotent stem cell (iPSC) line from a child diagnosed with EIEE, caused by SCN8A variation. The iPSC line expresses high pluripotency markers, retains SCN8A variation and is able to differentiate into three germ layers in vitro. The iPSC lines will provide useful resources for studying the pathogenesis and drug screening of SCN8A -related epilepsy.

[学科分类] 生理学