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

Akdas EY, Turan S, Guhathakurta D, Ekici AB, Salar S, Lie DC, Winner B, Fejtová A (2023)

Publication Type: Journal article

Publication year: 2023

Journal

Stem Cell Research Elsevier

Book Volume: 67

Pages Range: 103012

Article Number: 103012

DOI: 10.1016/j.scr.2022.103012

Abstract

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.

Authors with CRIS profile

Enes Yagiz Akdas Department of Psychiatry and Psychotherapy Sören Turan Lehrstuhl für Biochemie und Molekulare Medizin Debarpan Guhathakurta Department of Psychiatry and Psychotherapy Arif Bülent Ekici Lehrstuhl für Humangenetik Seda Salar Department of Psychiatry and Psychotherapy Dieter Chichung Lie Professur für Molekulare Medizin mit dem Schwerpunkt Molekulare Bildgebung Beate Winner Professur für Stammzell-Modelle seltener neuraler Erkrankungen Anna Fejtová Professur für Molekulare Psychiatrie

How to cite

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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