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

Publication date: Available online 17 January 2020Source: Stem Cell ResearchAuthor(s): Xiaomeng Yang, Beibei Yan, Haiyan Zhang, Yanyan Ma, Qi Zhou, Yue Li, Jingyun Guan, Dong Wang, Yi Liu, Zhongtao GaiAbstractAn 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research