Article
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 - 1 Mar 2020
Yang Xiaomeng, Yan Beibei, Zhang Haiyan, Ma Yanyan, Zhou Qi, Li Yue, Guan Jingyun, Wang Dong, Liu Yi, Gai Zhongtao
Abstract excerpt
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.
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