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

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

  • Stem Cell Res. 2020 Dec;49:102080. doi: 10.1016/j.scr.2020.102080.
Pan Gong 1,  Xianru Jiao 1,  Yuehua Zhang 1,  Zhixian Yang 2
Affiliations

Affiliations

  • 1 Peking University First Hospital, Beijing, China.
  • 2 Peking University First Hospital, Beijing, China. Electronic address: zhixian.yang@163.com.
PMID: 33232902 DOI: 10.1016/j.scr.2020.102080
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.

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