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从一名患有睡眠期癫痫性脑病且携带KCNA2（p.P405L）突变的患者中生成人诱导多能干细胞系。

Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation.

作者信息

Gong Pan, Jiao Xianru, Zhang Yuehua, Yang Zhixian

机构信息

Peking University First Hospital, Beijing, China.

Peking University First Hospital, Beijing, China.

出版信息

Stem Cell Res. 2020 Dec;49:102080. doi: 10.1016/j.scr.2020.102080. Epub 2020 Nov 18.

DOI:10.1016/j.scr.2020.102080
PMID:33232902
Abstract

Mutations in KCNA2 gene, encoding for the voltage-gated K+ channel Kv1.2, has been reported to be associated with epilepsy disorders. This channel is mainly expressed in the central nervous system and plays an important role in neuronal excitability and neurotransmitter release. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of an eight-year-old girl with epileptic encephalopathy and electrical status epilepticus during sleep carrying a mutation (c.1214C > T, p.Pro405Leu) in KCNA2. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.

摘要

据报道，编码电压门控钾离子通道Kv1.2的KCNA2基因突变与癫痫疾病有关。该通道主要在中枢神经系统中表达，在神经元兴奋性和神经递质释放中起重要作用。在此，我们从一名患有癫痫性脑病和睡眠期癫痫持续状态的8岁女孩的外周血单个核细胞中生成了一个诱导多能干细胞（iPSC）系，该女孩携带KCNA2基因的一个突变（c.1214C>T，p.Pro405Leu）。这些iPSC表现出稳定的扩增，表达多能性标志物，并在体外自发分化为三个胚层。

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引用本文的文献

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Mol Neurobiol. 2024 Nov;61(11):8491-8517. doi: 10.1007/s12035-024-04120-9. Epub 2024 Mar 22.
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Identification of key potassium channel genes of temporal lobe epilepsy by bioinformatics analyses and experimental verification.通过生物信息学分析和实验验证鉴定颞叶癫痫的关键钾通道基因
Front Neurol. 2023 Jul 7;14:1175007. doi: 10.3389/fneur.2023.1175007. eCollection 2023.
3
Human In Vitro Models of Epilepsy Using Embryonic and Induced Pluripotent Stem Cells.
癫痫的人胚胎和诱导多能干细胞体外模型。
Cells. 2022 Dec 7;11(24):3957. doi: 10.3390/cells11243957.
4
Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.睡眠期癫痫性电持续状态的发育性和/或癫痫性脑病的遗传病因：队列研究
Front Genet. 2021 Apr 8;12:607965. doi: 10.3389/fgene.2021.607965. eCollection 2021.