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

Summary

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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang C, Wang Y, Xu W, Lin X, Xi J, Wang S, Lin L, Yuan F, Wang A, Wang C, Luo X, Xu Q, Yin R, Zhang Y, Huang X, Chen Y
Journal Stem cell research
Publication Date 2021 Dec 11;59:102621
PubMed 34968892
DOI 10.1016/j.scr.2021.102621

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