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

Stem cell research - 1 Oct 2021

Leeson Hannah C, Hunter Zoe, Chaggar Harman Kaur, Lavin Martin F, Mackay-Sim Alan, Wolvetang Ernst J

Abstract excerpt

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...

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PMID: 34507142
DOI: 10.1016/j.scr.2021.102528

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