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

Stem cell research - 1 Dec 2020

Yan Rui, Liu Pengyu, Li Fake, Chu Meng, Lei Jiafan, Wang Feng, Luo Liangping, Xu Xueqing

Abstract excerpt

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...

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PMID: 33264726
DOI: 10.1016/j.scr.2020.102091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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