从一名五个月大的中国女孩外周血单个核细胞中分离得到的诱导多能干细胞（SHCDNi006-A 细胞），该女孩携带 KCNT1 基因杂合错义突变（c.2800 G>A）。
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.
机构信息
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.
出版信息
Stem Cell Res. 2022 Jul;62:102798. doi: 10.1016/j.scr.2022.102798. Epub 2022 May 2.
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.
婴儿癫痫伴游走性局灶性发作（EIMFS）是一种具有高度遗传异质性的癫痫性脑病。EIMFS 最常见的致病基因是钾钠离子激活通道亚家族 T 成员 1（KCNT1）。我们利用仙台病毒介导的重编程，从一位五个月大的中国女孩外周血单核细胞（PBMCs）中建立了一个诱导多能干细胞（iPSC）系，该女孩的 KCNT1 基因存在杂合错义突变（c.2800 G>A）。在扩增过程中，iPSCs 稳定，表达多能基因，保持正常核型，并在体外分化试验中表现出三个胚层的特征。
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