Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene

Mengxiao Shen; Shiqi Fan; Fan Wu; Peidi Cheng; Yanyan Gao; Ping Zheng; Shuo Feng; Xinna Ji; Qian Chen; Xue Zhang

Stem Cell Research (Oct 2023)

Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene

Mengxiao Shen,
Shiqi Fan,
Fan Wu,
Peidi Cheng,
Yanyan Gao,
Ping Zheng,
Shuo Feng,
Xinna Ji,
Qian Chen,
Xue Zhang

Affiliations

Mengxiao Shen: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China; Chinese Academy of Medical Sciences & Peking Union Medical College, China
Shiqi Fan: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China
Fan Wu: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China; Chinese Academy of Medical Sciences & Peking Union Medical College, China
Peidi Cheng: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China
Yanyan Gao: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China
Ping Zheng: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China
Shuo Feng: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China
Xinna Ji: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China; Corresponding authors at: Yabao Road No. 2, Beijing 100020, China.
Qian Chen: Department of Neurology, Affiliated Children’s Hospital of Capital Institute of Pediatrics, China; Chinese Academy of Medical Sciences & Peking Union Medical College, China; Corresponding authors at: Yabao Road No. 2, Beijing 100020, China.
Xue Zhang: State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

Journal volume & issue: Vol. 72
p. 103195

Abstract

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The DEPDC5 gene (OMIM 614191) has been proven to be a frequent cause of familial and sporadic focal epilepsy. A human induced pluripotent stem cell (iPSC) line was generated from a child diagnosed with focal epilepsy, which was caused by DEDPC5 mutation. The iPSC line expresses high pluripotency markers, carries the DEDPC5 mutation, and can differentiate into three germ layers in vitro. The iPSC lines offer a promising technique for studying the pathogenesis and conducting drug screening of DEDPC5-related epilepsy.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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