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Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-01-17 , DOI: 10.1016/j.scr.2020.101704 Xiaomeng Yang 1 , Beibei Yan 2 , Haiyan Zhang 1 , Yanyan Ma 1 , Qi Zhou 2 , Yue Li 1 , Jingyun Guan 1 , Dong Wang 1 , Yi Liu 1 , Zhongtao Gai 1
中文翻译：
从患有47，XXY和鸟氨酸转氨甲酰酶缺乏症且在OTC中携带半合子突变的患者产生诱导性多能干细胞系（SDQLCHi009-A）。
更新日期：2020-01-17
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-01-17 , DOI: 10.1016/j.scr.2020.101704 Xiaomeng Yang 1 , Beibei Yan 2 , Haiyan Zhang 1 , Yanyan Ma 1 , Qi Zhou 2 , Yue Li 1 , Jingyun Guan 1 , Dong Wang 1 , Yi Liu 1 , Zhongtao Gai 1
Affiliation
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original 47,XXY, and mutation in OTC, expressing pluripotency markers and bearing differentiation potential in vitro.
中文翻译：
从患有47，XXY和鸟氨酸转氨甲酰酶缺乏症且在OTC中携带半合子突变的患者产生诱导性多能干细胞系（SDQLCHi009-A）。
诱导的多能干细胞（iPSC）系从一个3天大的男孩的外周血单核细胞生成，该男孩在OTC中携带半合子突变（c.663 + 2T> G（sliping））出现47，XXY和鸟氨酸转氨甲酰酶缺陷。iPSCs最初具有47，XXY，在OTC中具有突变，在体外表达多能性标志物并具有分化潜能。
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