Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations

• Published in: Stem cell research Vol. 56; p. 102528
• Main Authors: Leeson, Hannah C., Hunter, Zoe, Chaggar, Harman Kaur, Lavin, Martin F., Mackay-Sim, Alan, Wolvetang, Ernst J.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01-10-2021; Elsevier
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2021.102528

Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this degeneration remains unclear. Here we describe the generation and validation of an induced pluripotent stem cell (iPSC) line from an olfactory biopsy from a patient with Ataxia Telangiectasia. Sequencing identified two previously unreported disease-causing mutations in the ATM gene. This line can be used to generate 2D and 3D patient-specific neuronal models enabling investigations into the mechanisms underlying neurodegeneration.