Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene

Xiaomeng Yang; Chunmei Yu; Min Gao; Yi Liu; Yuanxiang Liu

doi:10.1016/j.scr.2023.103244

Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene

Stem Cell Res. 2023 Dec:73:103244. doi: 10.1016/j.scr.2023.103244. Epub 2023 Nov 14.

Authors

Xiaomeng Yang¹, Chunmei Yu², Min Gao³, Yi Liu⁴, Yuanxiang Liu⁵

Affiliations

¹ First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China; 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 Department of Neurology, Children's Hospital Affiliated to Shandong University, 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.
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: y_liu99@sina.com.
⁵ First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China. Electronic address: lyxlwtg@126.com.

PMID: 37995436
DOI: 10.1016/j.scr.2023.103244

Abstract

Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell line SDQLCHi056-A from a five-year-old girl with NCBRS caused by heterozygous mutation (c.3592 G > A, p.V1198M) in the SMARCA2 gene (OMIM#601358). The established iPSC line was validated by pluripotency markers, original gene mutation and demonstrated trilineage differentiation potential in vitro.

Publication types

Case Reports

MeSH terms

Child, Preschool
Female
Humans
Induced Pluripotent Stem Cells* / metabolism
Intellectual Disability* / genetics
Mutation / genetics
Transcription Factors / genetics
Transcription Factors / metabolism

Substances

Transcription Factors
SMARCA2 protein, human

Supplementary concepts

Nicolaides Baraitser syndrome