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.
Journal: Stem Cell Research
Published:
Abstract
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 Chinese girl with heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene. The iPSCs were stable during amplification, expressed pluripotent genes, maintained a normal karyotype, and showed characteristics of the three germs layers in an in vitro differentiation assay.
Authors
Xiaona Luo, Yilin Wang, Fang Yuan, Longlong Lin, Anqi Wang, Chao Wang, Miao Guo, Simei Wang, Chunmei Wang, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Zhiping Liu, Wuhen Xu, Jingbin Yan, Fanyi Zeng, Yucai Chen
Relevant Conditions