The expanding world of stem cell modeling of Huntington's disease: creating tools with a promising future
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
Genome Medicine 2012, 4:68 doi:10.1186/gm369
Published: 31 August 2012Abstract
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.
