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

Summary

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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Liu X, Yang X, Li Y, Wang X, Ma J, Jiang W, Liu Y, Sun W, Gong Y
Journal Stem cell research
Publication Date 2020 Feb 5;43:101724
PubMed 32078988
DOI 10.1016/j.scr.2020.101724

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