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ATM Kinase pp 391-400 | Cite as

A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia

  • Romal Stewart
  • Gautam Wali
  • Chris Perry
  • Martin F. Lavin
  • Francois Féron
  • Alan Mackay-Sim
  • Ratneswary SutharsanEmail author
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1599)

Abstract

The molecular pathogenesis of ataxia-telangiectasia (A-T) is not yet fully understood, and a versatile cellular model is required for in vitro studies. The occurrence of continuous neurogenesis and easy access make the multipotent adult stem cells from the olfactory mucosa within the nasal cavity a potential cellular model. We describe an efficient method to establish neuron-like cells from olfactory mucosa biopsies derived from A-T patients for the purpose of studying the cellular and molecular aspects of this debilitating disease.

Key words

Ataxia-telangiectasia Olfactory mucosa Stem cells Neuronal differentiation 

Notes

Acknowledgments

This work was supported by funding from the Australian Department of Health and Ageing to AMS and the National Health and Medical Research Council (NHMRC) to MFL. We thank A-T patients and their families for their support. Support and help of BrAshA-T charity (https://brashat.org.au/) are gratefully acknowledged as well as clinicians and nurses of the Australian A-T Clinic for patient recruitment and biopsies.

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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Romal Stewart
    • 1
  • Gautam Wali
    • 2
  • Chris Perry
    • 3
  • Martin F. Lavin
    • 7
  • Francois Féron
    • 4
    • 5
  • Alan Mackay-Sim
    • 2
  • Ratneswary Sutharsan
    • 2
    • 6
    Email author
  1. 1.University of Queensland Centre for Clinical ResearchBrisbaneAustralia
  2. 2.Eskitis Institute for Drug DiscoveryGriffith UniversityNathanAustralia
  3. 3.Department of Otolaryngology Head and Neck SurgeryPrincess Alexandra HospitalBrisbaneAustralia
  4. 4.Aix Marseille Université, CNRS, NICN, UMR7259MarseilleFrance
  5. 5.APHM, Centre d’Investigations Cliniques en BiothérapieMarseilleFrance
  6. 6.Griffith Institute for Drug Discovery (GRIDD)Griffith UniversityNathanAustralia
  7. 7.University of Queensland Centre for Clinical Research (UQCCR), University of Queensland, HerstonBrisbaneAustralia

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