Wang Yilin, Yuan Fang, Wang Anqi, Wang Chao, Lin Longlong, Wang Simei, Wang Chunmei, Luo Xiaona, Xu Quanmei, Yin Rongrong, Cheng Hongyi, Zhang Yuanfeng, Sun Xiaomin, Xi Jiaming, Yan Jingbin, Zeng Fanyi, Chen Yucai
Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China.
Stem Cell Res. 2020 Jul;46:101838. doi: 10.1016/j.scr.2020.101838. Epub 2020 May 8.
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.
中介体复合物亚基12（MED12）相关疾病是主要出现在男性患者中的X连锁隐性智力障碍。我们遇到了一名患有与MED12相关综合征相关的杂合突变（c.1249-1G>C）的女性患者。MED12的表达明显低于其父母，且另一条X染色体失活。我们从一名1岁中国女孩的外周血单个核细胞（PBMC）中建立了诱导多能干细胞（iPSC）系，该女孩在MED12中存在杂合突变（c.1249-1G>C）。使用非整合型仙台病毒载体对PBMC进行重编程。这些iPSC表现出稳定的扩增、多能性相关基因表达、三系分化潜能以及正常的核型。
