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

doi:10.1016/j.scr.2020.101724

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Article

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

Stem cell research - 1 Mar 2020

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

Abstract excerpt

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...

Topics

Adolescent
Humans
Induced Pluripotent Stem Cells
Male
X-Linked Intellectual Disability
Mutation

Source

Open in PubMed

Identifiers

PMID: 32078988
DOI: 10.1016/j.scr.2020.101724

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