Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene

Stem cell research

article

Xiaomeng Yang¹  Chen Liu³  Haiyan Zhang¹  Yuqiang Lv¹  Yue Li¹  Zilong Li¹  Yi Liu¹  Zhongtao Gai¹ 

[1]Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University

[2]Shandong Provincial Clinical Research Center for Children’s Health and Disease

[3]Neonatology Department, Children’s Hospital Affiliated to Shandong University

DOI  :  10.1016/j.scr.2022.102982

学科分类：生理学

来源: Academic Press

【 摘 要 】

Coffin-Siris syndrome 1 (CSS1) is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Mutations in the ARID1B gene are the most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from a one-year-old girl with CSS1 caused by heterozygous mutation (c.1924C>T, p.Q642X) in the ARID1B gene (OMIM*135900). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.

【 授权许可】

CC BY|CC BY-NC-ND