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
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 cr...
Main Authors: | Yanan Yang, Chen Liu, Ning Liu, Xiaomeng Yang, Yi Liu, Zhongtao Gai |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-04-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124000333 |
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