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

Jingyun Guan; Xiaolin Liu; Haiyan Zhang; Yuqiang Lv; Xiaojing Wang; Xiaomeng Yang; Yanyan Ma; Qiji Liu; Yi Liu; Wenjie Sun

doi:10.1016/j.scr.2019.101628

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

Stem Cell Res. 2019 Dec:41:101628. doi: 10.1016/j.scr.2019.101628. Epub 2019 Oct 18.

Authors

Jingyun Guan¹, Xiaolin Liu², Haiyan Zhang¹, Yuqiang Lv¹, Xiaojing Wang³, Xiaomeng Yang¹, Yanyan Ma¹, Qiji Liu³, Yi Liu⁴, Wenjie Sun⁵

Affiliations

¹ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
² Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China; The Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, China.
³ The Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, China.
⁴ Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Electronic address: y_liu99@sina.com.
⁵ The Key Laboratory of Experimental Teratology, Department of Genetics, School of basic medical sciences, Shandong University, Jinan, Shandong 250012, China. Electronic address: sunwenjie@sdu.edu.cn.

PMID: 31678776
DOI: 10.1016/j.scr.2019.101628

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Cell Culture Techniques / methods*
Cell Line / pathology*
Cullin Proteins / genetics*
Humans
Induced Pluripotent Stem Cells / pathology*
Intellectual Disability / blood*
Intellectual Disability / genetics*
Leukocytes, Mononuclear / pathology*
Mutation / genetics*
Reproducibility of Results

Substances

CUL4B protein, human
Cullin Proteins