CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome
Summary
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 syndrome (HADDTS), a rare early onset neurodevelopmental disorder. We generated hESCs lines with heterozygote and homozygote c.991C>T in CTBP1 using CRISPR/Cas9 genome editing and validated them for genetic integrity, off-target mutations, and pluripotency. They will be useful for investigation of HADDTS pathophysiology and for screening for potential therapeutics. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Akdaş EY, Turan S, Guhathakurta D, Ekici A, Salar S, Lie DC, Winner B, Fejtova A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Mar;67:103012 |
| PubMed | 36610307 |
| DOI | 10.1016/j.scr.2022.103012 |
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