CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome

CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome

C-terminal Binding Protein 1 (CTBP1) is a ubiquitously expressed transcriptional co-repressor and membrane trafficking regulator. A recurrent de novo c.991C>T mutation in CTBP1 leads to expression of p.R331W CTBP1 and causes hypotonia, ataxia, developmental delay, and tooth enamel defects syndrom...

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Bibliographic Details
Main Authors: Enes Yağız Akdaş, Soeren Turan, Debarpan Guhathakurta, Arif Ekici, Seda Salar, D. Chichung Lie, Beate Winner, Anna Fejtova
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506122003610

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http://www.sciencedirect.com/science/article/pii/S1873506122003610

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