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

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

doi:10.1016/j.scr.2022.102798

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 Res. 2022 Jul:62:102798. doi: 10.1016/j.scr.2022.102798. Epub 2022 May 2.

Authors

Xiaona Luo¹, Yilin Wang¹, Fang Yuan¹, Longlong Lin¹, Anqi Wang¹, Chao Wang¹, Miao Guo¹, Simei Wang¹, Chunmei Wang¹, Quanmei Xu¹, Rongrong Yin¹, Hongyi Cheng¹, Yuanfeng Zhang¹, Zhiping Liu¹, Wuhen Xu¹, Jingbin Yan², Fanyi Zeng², Yucai Chen³

Affiliations

¹ Department of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China.
² Shanghai Key Laboratory of Embryo and Reproduction Engineering, Key Laboratory of Embryo Molecular Biology of National Health Commission, Shanghai Institute of Medical Genetics, Shanghai Chlidren's Hospital, Shanghai JiaoTong University, Shanghai 200040, China.
³ Department of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China; Shanghai Key Laboratory of Embryo and Reproduction Engineering, Key Laboratory of Embryo Molecular Biology of National Health Commission, Shanghai Institute of Medical Genetics, Shanghai Chlidren's Hospital, Shanghai JiaoTong University, Shanghai 200040, China. Electronic address: chenyc@shchildren.com.cn.

PMID: 35537242
DOI: 10.1016/j.scr.2022.102798

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
China
Electroencephalography
Epilepsy* / genetics
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Infant
Leukocytes, Mononuclear / metabolism
Mutation
Mutation, Missense
Nerve Tissue Proteins / metabolism
Potassium Channels, Sodium-Activated
Seizures

Substances

KCNT1 protein, human
Nerve Tissue Proteins
Potassium Channels, Sodium-Activated