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

doi:10.1016/j.scr.2021.102621

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

Stem Cell Res. 2022 Mar:59:102621. doi: 10.1016/j.scr.2021.102621. Epub 2021 Dec 11.

Authors

Chunmei Wang¹, Yilin Wang¹, Wuhen Xu¹, Xuefeng Lin¹, Jiaming Xi¹, Simei Wang¹, Longlong Lin¹, Fang Yuan¹, Anqi Wang¹, Chao Wang¹, Xiaona Luo¹, Quanmei Xu¹, Rongrong Yin¹, Yuanfeng Zhang¹, Xiaoyi Huang¹, Yucai Chen²

Affiliations

¹ Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
² 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. Electronic address: chenyc@shchildren.com.cn.

PMID: 34968892
DOI: 10.1016/j.scr.2021.102621

Abstract

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.