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

Stem Cell Research (Dec 2023)

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

Affiliations

Xiaomeng Yang: 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
Chunmei Yu: Department of Neurology, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China
Min Gao: 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
Yi Liu: 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; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China (Yi Liu).
Yuanxiang Liu: First School of Clinical Medicine, Shandong University of Traditional Chinese Medicine, Jinan 250355, Shandong, China; Corresponding authors at: Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University, Jinan 250022, China (Yi Liu).

Journal volume & issue: Vol. 73
p. 103244

Abstract

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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.

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

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