Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation
Summary
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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Gong P, Jiao X, Zhang Y, Yang Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec;49:102080 |
| PubMed | 33232902 |
| DOI | 10.1016/j.scr.2020.102080 |