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...

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Detalhes bibliográficos
Main Authors: Yilin Wang, Fang Yuan, Anqi Wang, Chao Wang, Longlong Lin, Simei Wang, Chunmei Wang, Xiaona Luo, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Xiaomin Sun, Jiaming Xi, Jingbin Yan, Fanyi Zeng, Yucai Chen
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020-07-01
Colecção:Stem Cell Research
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S1873506120301392
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