Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation


Myoclonus Epilepsy and Ataxia due to Potassium channel mutation (MEAK) is a rare epilepsy caused by changes in the structure and function of potassium channels due to mutations in the potassium voltage-gated channel subfamily C member 1 (KCNC1) gene. MEAK is one of the progressive myoclonus epilepsy (PME), and there are few studies on MEAK pathogenesis and targeted drugs. Here, we used peripheral blood from MEAK patients with KCNC1 (c.959G > A) gene mutation to establish induced pluripotent stem cells (iPSC). The iPSC of KCNC1 mutation established by us is a powerful tool for related research. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Nengqing L, Dian L, Yingjun X, Yi C, Lina H, Diyu C, Yinghong Y, Bing S, Xiaofang S
Journal Stem cell research
Publication Date 2020 Jul 5;47:101897
PubMed 32712483
DOI 10.1016/j.scr.2020.101897

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