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

Stem Cell Research (Jul 2022)

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

Affiliations

Xiaona Luo: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Yilin Wang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Fang Yuan: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Longlong Lin: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Anqi Wang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Chao Wang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Miao Guo: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Simei Wang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Chunmei Wang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Quanmei Xu: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Rongrong Yin: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Hongyi Cheng: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Yuanfeng Zhang: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Zhiping Liu: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Wuhen Xu: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China
Jingbin Yan: 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
Fanyi Zeng: 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
Yucai Chen: 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; Corresponding author at: Department of Neurology, Shanghai Children’s Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai 200062, China.

Journal volume & issue: Vol. 62
p. 102798

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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