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
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Luo X, Wang Y, Yuan F, Lin L, Wang A, Wang C, Guo M, Wang S, Wang C, Xu Q, Yin R, Cheng H, Zhang Y, Liu Z, Xu W, Yan J, Zeng F, Chen Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Jul;62:102798 |
| PubMed | 35537242 |
| DOI | 10.1016/j.scr.2022.102798 |