Generation of patient-specific pluripotent induced stem cell line SDUBMSI002-A from a patient with X-linked mental retardation syndrome

从患有 X 连锁智力低下综合征的患者体内生成患者特异性多能诱导干细胞系 SDUBMSI002-A

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作者:Xiaolin Liu, Xiaomeng Yang, Yue Li, Xiaojing Wang, Jian Ma, Wei Jiang, Yi Liu, Wenjie Sun, Yaoqin Gong

Abstract

CUL4B gene encodes a scaffold protein that assembles the CRL4B ubiquitin ligase complex, and its mutation can causes X-Linked Mental Retardation (XLMR) emerged with intellectual deficit, delayed puberty, short stature and fine intention tremor. Here we report the generation of SDUBMSi002-A, an induced pluripotent stem cell line derived from patient with c. 1564C→T with CUL4B gene using non-integrative reprogramming technology. The iPSCs line expresses pluripotent markers, has a normal male karyotype and can differentiate into the three germ layers.

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