Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome


Mediator complex subunit 12 (MED12)-related disorders are recessive-X-linked intellectual disabilities present primarily in male patients. We came across a female patient with a heterozygous mutation (c.1249-1G > C) related to MED12-related syndrome. MED12 expression was significantly lower than that in her parents, and another X chromosome was inactive. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 1-year old Chinese girl with a heterozygous mutation (c.1249-1G > C) in MED12. PBMCs were reprogrammed using nonintegrative Sendai viral vectors. The iPSCs showed stable amplification, pluripotency-related gene expression, trilineage differentiation potential, and a normal karyotype. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Wang Y, Yuan F, Wang A, Wang C, Lin L, Wang S, Wang C, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Xi J, Yan J, Zeng F, Chen Y
Journal Stem cell research
Publication Date 2020 Jul;46:101838
PubMed 32505899
DOI 10.1016/j.scr.2020.101838

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