Document Type
Article
Publication Date
12-1-2023
Original Citation
Nurieva W,
Ivanova E,
Chehab S,
Singh P,
Reichlmeir M,
Szuhai K,
Auburger G,
Skarnes W,
Ivics Z.
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia. Stem Cell Res. 2023;73:103247
Keywords
JGM, Humans, Ataxia Telangiectasia, Ataxia Telangiectasia Mutated Proteins, Gene Editing, Induced Pluripotent Stem Cells, Mutation, Cell Cycle Proteins
JAX Source
Stem Cell Res. 2023;73:103247
ISSN
1876-7753
PMID
37976651
DOI
https://doi.org/10.1016/j.scr.2023.103247
Grant
This research received financial support from the Deutsche Forschungsgemeinschaft, grant number IV 21/17-1.
Abstract
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.
Comments
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by- nc-nd/4.0/).