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Series GSE37547 Query DataSets for GSE37547
Status Public on Jun 15, 2012
Title GENETIC CORRECTION OF HUNTINGTON'S DISEASE PHENOTYPES IN INDUCED PLURIPOTENT STEM CELLS
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Huntington's Disease (HD) is caused by a CAG expansion in the huntingtin gene. Expansion of the polyglutamine tract in the huntingtin protein results in massive cell death in the striatum of HD patients. We report that human induced pluripotent stem cells (iPSCs) derived from HD patient fibroblasts can be corrected by replacing the expanded CAG repeat with a normal repeat using homologous recombination, and that the correction persists in iPSC differentiation into DARPP-32 positive neurons in vitro and vivo. Further, correction of the HD-iPSCs normalized pathogenic HD signaling pathways (cadherin, TGF-β, BNDF, caspase activation), and reversed disease phenotypes such as susceptibility to cell death and altered mitochondrial bioenergetics in neural stem cells. The ability to make patient-specific, genetically corrected iPSCs from HD patients will provide relevant disease models in identical genetic backgrounds and is a critical step for the eventual use of these cells in cell replacement therapy.
 
Overall design 16 experimental samples were used overall. There were 8 replicates per group, with one group being the control, and the other being the experimental. Comparison was carried out on the Nimblegen platform.
 
Contributor(s) An MC, Zhang N, Scott G, Montoro D, Wittkop T, Mooney S, Melov S, Ellerby L
Citation(s) 22748967
Submission date Apr 24, 2012
Last update date Jan 02, 2013
Contact name Simon Melov
E-mail smelov@buckinstitute.org
Phone 415 209 2068
Organization name Buck Institute for Research on Aging
Lab Melov Lab
Street address 8001 Redwood Blvd
City Novato
State/province CA
ZIP/Postal code 94945
Country USA
 
Platforms (1)
GPL15338 Nimblegen Homo sapiens HG18 Expression Array (12x135k) [gene-level]
Samples (16)
GSM921457 Corrected HD-iPSC culture 1
GSM921458 Corrected HD-iPSC culture 2
GSM921459 Corrected HD-iPSC culture 3
Relations
BioProject PRJNA161539

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE37547_RAW.tar 55.9 Mb (http)(custom) TAR (of PAIR)
Raw data provided as supplementary file
Processed data included within Sample table

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