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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.
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Details
1 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
2 Department of Cancer and Cell Biology, Queensland Institute of Medical Research, Bancroft Centre, Brisbane, Queensland, Australia
3 Department of Pathology, UCLA School of Medicine, Los Angeles, California, USA
4 Department of Systems & Computational Biology, Albert Einstein College of Medicine, New York, New York, USA
5 Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Queensland, Australia
6 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