Abstract

This study demonstrates that fibroblasts from patients with ataxia-telangiectasia (A-T) can be reprogrammed as bona fide induced pluripotent stem cells (iPSCs), albeit at a reduced efficiency. It is shown that iPSCs can be generated from a chromosomal instability syndrome and that these cells can be used to discover early developmental consequences of ATM deficiency, such as altered mitochondrial function, that may be relevant to A-T pathogenesis and amenable to therapeutic intervention.

Details

Title
Induced Pluripotent Stem Cells from Ataxia-Telangiectasia Recapitulate the Cellular Phenotype
Author
Nayler Sam 1 ; Gatei Magtouf 2 ; Kozlov, Sergei 2 ; Gatti, Richard 3 ; Mar, Jessica C 4 ; Wells, Christine A 5 ; Lavin, Martin 6 ; Wolvetang Ernst 5 

 Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Australia; Department of Cancer and Cell Biology, Queensland Institute of Medical Research, Bancroft Centre, Brisbane, Queensland, Australia 
 Department of Cancer and Cell Biology, Queensland Institute of Medical Research, Bancroft Centre, Brisbane, Queensland, Australia 
 Department of Pathology, UCLA School of Medicine, Los Angeles, California, USA 
 Department of Systems & Computational Biology, Albert Einstein College of Medicine, New York, New York, USA 
 Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Australia 
 Department of Cancer and Cell Biology, Queensland Institute of Medical Research, Bancroft Centre, Brisbane, Queensland, Australia; Division of Cancer, University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia 
Pages
523-535
Section
Embryonic Stem Cells/Induced Pluripotent Stem (iPS) Cells
Publication year
2012
Publication date
Jul 2012
Publisher
Oxford University Press
ISSN
21576564
e-ISSN
21576580
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2290102304
Copyright
© 2012. This work is published under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.