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
Summary
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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Guan J, Liu X, Zhang H, Lv Y, Wang X, Yang X, Ma Y, Liu Q, Liu Y, Sun W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Dec;41:101628 |
| PubMed | 31678776 |
| DOI | 10.1016/j.scr.2019.101628 |