标题: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
作者:Yang, Xiaomeng; Yan, Beibei; Zhang, Haiyan; Ma, Yanyan; Zhou, Qi; Li, Yue; Guan, Jingyun; Wang, Dong; Liu, Yi; Gai, Zhongtao
作者机构:[Yang, Xiaomeng; Zhang, Haiyan; Ma, Yanyan; Li, Yue; Guan, Jingyun; Wang, Dong; Liu, Yi; Gai, Zhongtao] Shandong Univ, Qilu Childrens Hosp, Pediat Res 更多
通讯作者:Liu, Y(y_liu99@sina.com)
通讯作者地址:Liu, Y; Gai, ZT (corresponding author), Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China.
来源:STEM CELL RESEARCH
出版年:2020
卷:43
DOI:10.1016/j.scr.2020.101704
摘要: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.
收录类别:SCOPUS;SCIE
资源类型:期刊论文
原文链接:https://www.scopus.com/inward/record.uri?eid=2-s2.0-85078660608&doi=10.1016%2fj.scr.2020.101704&partnerID=40&md5=8910b7d1ac46128d7c80d00c942f6328
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