标题:Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene
作者:Zhang Haiyan; Ma Yanyan; Yu Shujuan; Yang Xiaomeng; Li Yue; Guan Jingyun; Dong Rui; Gai, Zhongtao; Yi Liu
作者机构:[Zhang Haiyan; Ma Yanyan; Yang Xiaomeng; Li Yue; Guan Jingyun; Dong Rui; Gai, Zhongtao; Yi Liu] Shandong Univ, Pediat Res Inst, Qilu Childrens Hosp, J 更多
通讯作者:Gai, ZT;Yi, L;Gai, ZT
通讯作者地址:[Gai, ZT; Yi, L]Shandong Univ, Pediat Res Inst, Qilu Childrens Hosp, Jinan 250022, Shandong, Peoples R China;[Gai, ZT]Shandong Univ, Dept Ophthalmol, 更多
来源:STEM CELL RESEARCH
出版年:2019
卷:41
DOI:10.1016/j.scr.2019.101611
摘要:We established an induced pluripotent stem cell (iPSC) line (SDQLCHi010-A) from peripheral blood mononuclear cells isolated from a 4-year-old boy with optic nerve malformation and intellectual disability carrying a heterozygous mutation (c.220A>G (p.S74G)) in PAX6 gene. Non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and MYC were used for reprogramming. The established iPSC line showed normal karyotype, expressed pluripotency markers, exhibited differentiation potential in vitro and kept PAX6 gene mutation.
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-s2.0-85074513622&doi=10.1016%2fj.scr.2019.101611&partnerID=40&md5=07b1666313fad6fa701a55a385d1232d
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