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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Leeson HC, Hunter Z, Chaggar HK, Lavin MF, Mackay-Sim A, Wolvetang EJ
Journal Stem cell research
Publication Date 2021 Oct;56:102528
PubMed 34507142
DOI 10.1016/j.scr.2021.102528

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