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

• DOI: 10.1016/j.scr.2022.102798
• Publication Date: 2022-05-02T15:48:23Z
• 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
• Keywords: 0301 basic medicine; China; Epilepsy; QH301-705.5; Induced Pluripotent Stem Cells; Mutation, Missense; Infant; Cell Differentiation; Electroencephalography; Nerve Tissue Proteins; Potassium Channels, Sodium-Activated; 3. Good health; 03 medical and health sciences; Seizures; Mutation; Leukocytes, Mononuclear; Humans; Female; Biology (General)

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.