Wang Chunmei, Wang Yilin, Xu Wuhen, Lin Xuefeng, Xi Jiaming, Wang Simei, Lin Longlong, Yuan Fang, Wang Anqi, Wang Chao, Luo Xiaona, Xu Quanmei, Yin Rongrong, Zhang Yuanfeng, Huang Xiaoyi, Chen Yucai
Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
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. 2022 Mar;59:102621. doi: 10.1016/j.scr.2021.102621. Epub 2021 Dec 11.
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.
无精相关同源盒（ARX）相关疾病是隐性X连锁智力障碍疾病。我们遇到一名半合子突变（c.1507_1508del）患者，表现为智力障碍、早发性癫痫性脑病和大田原综合征。该患者具有女性生殖器，但核型为XY。我们从一名6个月大的中国儿童外周血单个核细胞（PBMC）中建立了诱导多能干细胞（iPSC）系，该儿童ARX基因存在半合子突变（c.1507_1508del）。使用仙台病毒载体对PBMC进行重编程。iPSC表现出稳定扩增、多能性相关基因表达及三系分化潜能。对iPSC进行核型分析显示有23对染色体，结构正常，性染色体为XY。
