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

. 2021 Oct;56:102528.
 doi: 10.1016/j.scr.2021.102528. Epub 2021 Sep 1.

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

Hannah C Leesonh.leeson@uq.edu.au." href="https://pubmed.ncbi.nlm.nih.gov/34507142/#affiliation-1" ref="linksrc=author_aff" style="box-sizing: inherit; background-color: rgb(241, 241, 241); color: rgb(50, 58, 69); text-decoration: none; font-size: inherit; display: inline-block; line-height: 1; padding: 0.1rem 0.3rem; border-radius: 2px; transition: color 0.3s ease 0s; margin-right: 0px;">1, Zoe Hunter2, Harman Kaur Chaggar2, Martin F Lavin3, Alan Mackay-Sim4, Ernst J Wolvetange.wolvetang@uq.edu.au." href="https://pubmed.ncbi.nlm.nih.gov/34507142/#affiliation-5" ref="linksrc=author_aff" style="box-sizing: inherit; background-color: rgb(241, 241, 241); color: rgb(50, 58, 69); text-decoration: none; font-size: inherit; display: inline-block; line-height: 1; padding: 0.1rem 0.3rem; border-radius: 2px; transition: color 0.3s ease 0s; margin-right: 0px;">5
Affiliations 

Affiliations

  • 1The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia. Electronic address: h.leeson@uq.edu.au.
  • 2The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia.
  • 3The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Brisbane, QLD 4006, Australia.
  • 4Griffith University, Griffith Institute for Drug Discovery (GRIDD), Nathan, Brisbane, QLD 4111, Australia.
  • 5The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia. Electronic address: e.wolvetang@uq.edu.au.
Free article

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.