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

从携带 CUL4B 基因 c.1007_1011del、p.(Ile336fs) 的智力障碍 15 型患者的外周血单核细胞生成 iPSC 系 (SDQLCHi015-A)

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作者:Jingyun Guan, Xiaolin Liu, Haiyan Zhang, Yuqiang Lv, Xiaojing Wang, Xiaomeng Yang, Yanyan Ma, Qiji Liu, Yi Liu, Wenjie Sun

Abstract

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.

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