Article
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.
Stem cell research - 1 Dec 2019
Guan Jingyun, Liu Xiaolin, Zhang Haiyan, Lv Yuqiang, Wang Xiaojing, Yang Xiaomeng, Ma Yanyan, Liu Qiji, Liu Yi, Sun Wenjie
Abstract excerpt
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...
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