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

Autor:	Nengqing L; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Dian L; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Yingjun X; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Yi C; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Lina H; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Diyu C; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Yinghong Y; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China., Bing S; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China. Electronic address: 187371743@qq.com., Xiaofang S; Key Lab for Major Obstetric Diseases of Guangdong Province, Experimental Department of Institute of Gynecology and Obstetrics, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, Guangdong Province, China. Electronic address: xiaofangsun@gzhmu.edu.cn.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Jul 05; Vol. 47, pp. 101897. Date of Electronic Publication: 2020 Jul 05.
DOI:	10.1016/j.scr.2020.101897
Abstrakt:	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. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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