Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene

Chunmei Wang; Yilin Wang; Wuhen Xu; Xuefeng Lin; Jiaming Xi; Simei Wang; Longlong Lin; Fang Yuan; Anqi Wang; Chao Wang; Xiaona Luo; Quanmei Xu; Rongrong Yin; Yuanfeng Zhang; Xiaoyi Huang; Yucai Chen

Stem Cell Research (Mar 2022)

Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene

Chunmei Wang,
Yilin Wang,
Wuhen Xu,
Xuefeng Lin,
Jiaming Xi,
Simei Wang,
Longlong Lin,
Fang Yuan,
Anqi Wang,
Chao Wang,
Xiaona Luo,
Quanmei Xu,
Rongrong Yin,
Yuanfeng Zhang,
Xiaoyi Huang,
Yucai Chen

Affiliations

Chunmei Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Yilin Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Wuhen Xu: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Xuefeng Lin: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Jiaming Xi: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Simei Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Longlong Lin: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Fang Yuan: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Anqi Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Chao Wang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Xiaona Luo: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Quanmei Xu: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Rongrong Yin: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Yuanfeng Zhang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Xiaoyi Huang: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China
Yucai Chen: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China; Corresponding author at: Department of Neurology, Shanghai Children’s Hospital, Shanghai JiaoTong University, Shanghai 200062, China.

Journal volume & issue: Vol. 59
p. 102621

Abstract

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Aristaless-related homeobox (ARX)-related disorders are recessive X-linked intellectual disability disorders. We encountered a patient with a hemizygous mutation (c.1507_1508del) showing intellectual disability, early-onset epileptic encephalopathy and Ohtahara syndrome. The patient had female genitals, but an XY karyotype. We established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a six-month Chinese child with a hemizygous mutation (c.1507_1508del) in ARX. The PBMCs were reprogrammed with Sendai viral vectors. The iPSCs showed stable amplification, pluripotency-related gene expression, and trilineage differentiation potential. Karyotype analysis of the iPSCs showed 23 pairs of chromosomes with normal structure and sex chromosome is XY.

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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