Akdas EY, Turan S, Guhathakurta D, Ekici AB, Salar S, Lie DC, Winner B, Fejtová A (2023)
Publication Language: English
Publication Status: Published
Publication Type: Journal article
Publication year: 2023
Book Volume: 67
Pages Range: 103012
URI: https://www.sciencedirect.com/science/article/pii/S1873506122003610?via=ihub
DOI: 10.1016/j.scr.2022.103012
Open Access Link: https://www.sciencedirect.com/science/article/pii/S1873506122003610?via=ihub
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.
APA:
Akdas, E.Y., Turan, S., Guhathakurta, D., Ekici, A.B., Salar, S., Lie, D.C.,... Fejtová, A. (2023). CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome. Stem Cell Research, 67, 103012. https://doi.org/10.1016/j.scr.2022.103012
MLA:
Akdas, Enes Yagiz, et al. "CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome." Stem Cell Research 67 (2023): 103012.
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