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The expanding world of stem cell modeling of Huntington's disease: creating tools with a promising future

Jacqueline M Ward123 and Albert R La Spada1234567*

Author Affiliations

1 Department of Pediatrics, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

2 Institute for Genomic Medicine, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

3 Sanford Consortium for Regenerative Medicine, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

4 Department of Cellular and Molecular Medicine, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

5 Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

6 Division of Biological Sciences, University of California, San Diego, 9500 Gilman Drive, MC 0642, La Jolla, CA 92037, USA

7 Rady Children's Hospital, San Diego, CA 92193, USA

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Genome Medicine 2012, 4:68  doi:10.1186/gm369

Published: 31 August 2012

Abstract

Deconstructing the mechanistic basis of neurodegenerative disorders, such as Huntington's disease (HD), has been a particularly challenging undertaking, relying mostly on post-mortem tissue samples, non-neural cell lines from affected individuals, and model organisms. Two articles recently published in Cell Stem Cell report first the generation and characterization of induced pluripotent stem cell (iPSC)-derived models for HD, and second, the genetic correction of a disease-causing CAG expansion mutation in iPSCs from individuals with HD. Taken together, these two studies provide a framework for the production and validation of iPSC materials for human neurodegenerative disease research and yield crucial tools for investigating future therapies.