Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia


Ataxia-Telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutations in the ataxia-telangiectasia mutated (ATM) gene, resulting, among other symptoms, in neurological dysfunction. ATM is known to be a master controller of signal transduction for DNA damage response, with additional functions that are poorly understood. CRISPR/Cas9 technology was used to introduce biallelic mutations at selected sites of the ATM gene in human induced pluripotent stem cells (hiPSCs). This panel of hiPSCs with nonsense and missense mutations in ATM can help understand the molecular basis of A-T. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Nurieva W, Ivanova E, Chehab S, Singh P, Reichlmeir M, Szuhai K, Auburger GWJ, Skarnes WC, Ivics Z
Journal Stem cell research
Publication Date 2023 Dec;73:103247
PubMed 37976651
DOI 10.1016/j.scr.2023.103247

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