CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome

Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, Winner B, Turan S (2020)

Publication Type: Journal article

Publication year: 2020

Journal

Stem Cell Research Elsevier

Book Volume: 47

Article Number: 101889

DOI: 10.1016/j.scr.2020.101889

Abstract

ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell model for ARID1B-associated CSS has been reported. Here, we describe the generation and validation of ARID1B+/- hESCs by introducing out of frame deletions into exon 5 or 6 of ARID1B with CRISPR/Cas9 genome editing. These ARID1B+/- hESC lines allow to study the pathophysiology of ARID1B-associated CSS in 2D and 3D models of human neurodevelopment.

Authors with CRIS profile

Tom Börstler Professur für Stammzell-Modelle seltener neuraler Erkrankungen Mandy Krumbiegel Institute of Human Genetics Atria Kavyanifar Professur für Molekulare Medizin mit dem Schwerpunkt Molekulare Bildgebung André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Dieter Chichung Lie Professur für Molekulare Medizin mit dem Schwerpunkt Molekulare Bildgebung Beate Winner Professur für Stammzell-Modelle seltener neuraler Erkrankungen Sören Turan Lehrstuhl für Biochemie und Molekulare Medizin

How to cite

APA:

Börstler, T., Wend, H., Krumbiegel, M., Kavyanifar, A., Reis, A., Lie, D.C.,... Turan, S. (2020). CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Research, 47. https://dx.doi.org/10.1016/j.scr.2020.101889

MLA:

Börstler, Tom, et al. "CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome." Stem Cell Research 47 (2020).

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