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

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.

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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://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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