Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations
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Hunter, Zoe
Chaggar, Harman Kaur
Lavin, Martin F
Mackay-Sim, Alan
Wolvetang, Ernst J
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Abstract
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.
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Stem Cell Research
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56
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© 2021 The Authors.Published by Elsevier B.V. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International (CC BY-NC-ND 4.0) License, which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.
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Biomedical and clinical sciences
Genetics
Microbiology
Biological sciences
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Leeson, HC; Hunter, Z; Chaggar, HK; Lavin, MF; Mackay-Sim, A; Wolvetang, EJ, Ataxia Telangiectasia iPSC line generated from a patient olfactory biopsy identifies novel disease-causing mutations, Stem Cell Research, 2021, 56, pp. 102528