从一名携带 OTC 基因半合子突变的 47,XXY 和鸟氨酸转氨甲酰酶缺乏症患者中诱导产生多能干细胞系（SDQLCHi009-A）。
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.
机构信息
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Neonatology Department, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
出版信息
Stem Cell Res. 2020 Mar;43:101704. doi: 10.1016/j.scr.2020.101704. Epub 2020 Jan 17.
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.
从一名 3 天大的男孩外周血单个核细胞中诱导产生多能干细胞 (iPSC) 系，该男孩患有 47,XXY 和鸟氨酸转氨甲酰酶缺乏症，携带 OTC 中的半合子突变 (c.663+2T>G [sliping])。iPSCs 具有原始的 47,XXY 和 OTC 中的突变，表达多能性标志物，并具有体外分化潜能。
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