Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with NEDSDV carrying a heterozygote mutation in the CTNNB1 gene
Summary
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, #615075), a rare autosomal dominant genetic disorder caused by heterozygous mutation in the CTNNB1 gene, is characterized by global developmental delay, impaired intellectual development, axial hypotonia, and dysmorphic craniofacial features with microcephaly. Here, we established an iPSC line (SDQLCHi055-A) from a patient with NEDSDV carrying a heterozygote mutation (c.854 T > A, p.L285*) in the CTNNB1 gene. The iPSC line has typical iPSCs characteristics, including pluripotency and trilineage differentiation hallmarks. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Yang Y, Liu C, Liu N, Yang X, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103335 |
| PubMed | 38364504 |
| DOI | 10.1016/j.scr.2024.103335 |