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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-12-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303925 |