Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

Manting Xu; Xin Duan; Xiaotun Ren; Zhimei Liu; Shuhua Chen; Fang Fang

Stem Cell Research (Mar 2022)

Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

Manting Xu,
Xin Duan,
Xiaotun Ren,
Zhimei Liu,
Shuhua Chen,
Fang Fang

Affiliations

Manting Xu: Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Xin Duan: Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Xiaotun Ren: Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Zhimei Liu: Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Shuhua Chen: Corresponding authors.; Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Fang Fang: Corresponding authors.; Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China

Journal volume & issue: Vol. 59
p. 102633

Abstract

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Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Here, we generated an induced pluripotent stem cell (iPSC) line from the human dermal fibroblasts (HDFs) of an one-year-old boy with EOEE carrying homozygous c.1426G > A mutation in CARS2 gene. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.

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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