Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene


Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly, severe mental retardation, spasticity, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype. Here, we generated an induced pluripotent stem cell (iPSC) line (SBWCHi001-A) from an 18-month-old patient with NEDSDV, who harbored a de novo heterozygous mutation in CTNNB1. The transduced iPSCs expressed pluripotency markers, and could differentiate into three germ layers in vitro. This cell line will be a cell model to explore the pathogenesis of NEDSDV and discover potential therapies. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Yan R, Liu P, Li F, Chu M, Lei J, Wang F, Luo L, Xu X
Journal Stem cell research
Publication Date 2020 Dec;49:102091
PubMed 33264726
DOI 10.1016/j.scr.2020.102091

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