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 |
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| Journal | Stem cell research |
| Publication Date | 2022 Mar;59:102621 |
| PubMed | 34968892 |
| DOI | 10.1016/j.scr.2021.102621 |