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
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102621
PMID：
Published：2021-12-11
research field：神经科学医学遗传学干细胞研究
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.
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