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

Xiaomeng Yang; Chen Liu; Haiyan Zhang; Yuqiang Lv; Yue Li; Zilong Li; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2022.102982

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 Res. 2023 Feb:66:102982. doi: 10.1016/j.scr.2022.102982. Epub 2022 Nov 24.

Authors

Xiaomeng Yang¹, Chen Liu², Haiyan Zhang¹, Yuqiang Lv¹, Yue Li¹, Zilong Li¹, Yi Liu³, Zhongtao Gai⁴

Affiliations

¹ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
² Neonatology Department, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
³ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China. Electronic address: [email protected].
⁴ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China. Electronic address: [email protected].

PMID: 36473251
DOI: 10.1016/j.scr.2022.102982

Abstract

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.

Publication types

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

MeSH terms

Abnormalities, Multiple
DNA-Binding Proteins / genetics
Face / abnormalities
Facies
Female
Hand Deformities, Congenital
Humans
Induced Pluripotent Stem Cells*
Infant
Intellectual Disability* / genetics
Leukocytes, Mononuclear
Micrognathism
Mutation / genetics
Neck / abnormalities
Transcription Factors / genetics

Substances

DNA-Binding Proteins
ARID1B protein, human
Transcription Factors

Supplementary concepts

Coffin-Siris syndrome
Coarse facial features