Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Yanxin Wang; Yuqiang Lv; Xiaomeng Yang; Yue Li; Zilong Li; Zaifen Gao; Zhongtao Gai; Yi Liu

Stem Cell Research (Oct 2022)

Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene

Yanxin Wang,
Yuqiang Lv,
Xiaomeng Yang,
Yue Li,
Zilong Li,
Zaifen Gao,
Zhongtao Gai,
Yi Liu

Affiliations

Yanxin Wang: Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Yuqiang Lv: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Xiaomeng Yang: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Yue Li: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Zilong Li: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Zaifen Gao: Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China
Zhongtao Gai: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China; Epilepsy Center, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China.
Yi Liu: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Ji’nan 250022, China.

Journal volume & issue: Vol. 64
p. 102922

Abstract

Read online

Autosomal dominant mental retardation type 5 (MRD5) is a rare neurodevelopmental disorder caused by mutations in the SYNGAP1 gene. Here, we established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of a 30-month-old boy carrying a heterozygous mutation (c.2059C > T) in the SYNGAP1 gene. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and displayed differentiation potential in vitro.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal