Article
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Stem cell research - 1 Jul 2022
Luo Xiaona, Wang Yilin, Yuan Fang, Lin Longlong, Wang Anqi, Wang Chao, Guo Miao, Wang Simei, Wang Chunmei, Xu Quanmei, Yin Rongrong, Cheng Hongyi, Zhang Yuanfeng, Liu Zhiping, Xu Wuhen, Yan Jingbin, Zeng Fanyi, Chen Yucai
Abstract excerpt
Epilepsy of infancy with migrating focal seizures (EIMFS) is a kind of epileptic encephalopathy with high genetic heterogeneity. The most common pathogenic gene for EIMFS is potassium sodium-activated channel subfamily T member 1 (KCNT1). Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a five-month-old...
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