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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

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
Source :
Stem Cell Research, Vol 62, Iss , Pp 102798- (2022)
Publication Year :
2022
Publisher :
Elsevier, 2022.

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
62
Issue :
102798-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.1dc604a960284801bdf68e662f6e9500
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2022.102798