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 Mar;43:101724 |
| PubMed | 32078988 |
| DOI | 10.1016/j.scr.2020.101724 |