标题:Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene
作者:Guan Jingyun; Liu Xiaolin; Zhang Haiyan; Lv Yuqiang; Wang Xiaojing; Yang Xiaomeng; Ma Yanyan; Liu Qiji; Liu Yi; Sun Wenjie
作者机构:[Guan Jingyun; Liu Xiaolin; Zhang Haiyan; Lv Yuqiang; Yang Xiaomeng; Ma Yanyan; Liu Yi] Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, Jinan 250 更多
通讯作者:Liu, Y;Sun, WJ
通讯作者地址:[Liu, Y]Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China;[Sun, WJ]Shandong Univ, Sch Basic Med Sci, Dept G 更多
来源:STEM CELL RESEARCH
出版年:2019
卷:41
DOI:10.1016/j.scr.2019.101628
摘要:CUL4B gene mutation can cause intelligence deficiency 15, a syndromic form of X-linked mental retardation characterized by severe intellectual deficit associated with short stature, craniofacial dysmorphism, speech delay and impairment, tremor and gait ataxia. Here, we generated iPSCs from a Chinese patient with c.1007_1011del (p.(Ile336fs)) in CUL4B gene by reprogramming peripheral blood mononuclear cells with non-integrating vectors. The generated iPSC line (SDQLCHi015-A) expresses pluripotency markers, presents a normal karyotype and is able to differentiate into three germ layers.
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-s2.0-85074165626&doi=10.1016%2fj.scr.2019.101628&partnerID=40&md5=f3dd834f52a79cb680e7cdd97c988725
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