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Series GSE22651 Query DataSets for GSE22651
Status Public on Jul 02, 2010
Title Friedreich’s Ataxia Induced Pluripotent Stem Cells Recapitulate GAA•TTC Triplet-Repeat Instability
Organism Homo sapiens
Experiment type Expression profiling by array
Summary The inherited neurodegenerative disease Friedreich’s ataxia (FRDA) is caused by hyperexpansion of GAA•TTC trinucleotide repeats within the first intron of the FXN gene, encoding the mitochondrial protein frataxin. Long GAA•TTC repeats causes heterochromatin-mediated silencing and loss of frataxin in affected individuals. We report the derivation of induced pluripotent stem cells (iPSCs) from FRDA patient fibroblasts through retroviral transduction of transcription factors. FXN gene repression is maintained in the iPSCs, as are the mRNA and miRNA global expression signatures reflecting the human disease. GAA•TTC repeats uniquely in FXN in the iPSCs exhibit repeat instability similar to patient families, where they expand and/or contract with discrete changes in length between generations. The mismatch repair enzyme Msh2, implicated in repeat instability in other triplet repeat diseases, is highly expressed in the iPSCs, occupies FXN intron 1, and shRNA silencing of Msh2 impedes repeat expansion, providing a possible molecular explanation for repeat expansion in FRDA.
 
Overall design 65 samples from various number of tissue, primary cell lines undifferenatiated human embryonic stem cell lines, induces pluripotent stem cell lines have been run on Illumina HT12 v3 chips.
 
Contributor(s) Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent L, Loring JF, Napierala M, Gottesfeld JM
Citation(s) 21040903
Submission date Jun 30, 2010
Last update date Aug 16, 2018
Contact name JOEL GOTTESFELD ; JEANNE LORING ; GULSAH ALTUN
E-mail joelg@scripps.edu, skusen@home2.scripps.edu, jloring@scripps.edu, gulsah@scripps.edu, gulsahaltun@gmail.com
Phone 8587847753
Organization name THE SCRIPPS RESEARCH INSTITUTE
Department CHEMICAL PHYSIOLOGY
Lab JEANNE LORING
Street address 3030 Science Park Rd. 3rd floor, room 3020
City SAN DIEGO
State/province CA
ZIP/Postal code 92037
Country USA
 
Platforms (1)
GPL6947 Illumina HumanHT-12 V3.0 expression beadchip
Samples (65)
GSM561902 AdiposePt1
GSM561903 AdiposePt2
GSM561904 AdrenalPt2
Relations
BioProject PRJNA128015

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
GSE22651_RAW.tar 6.2 Mb (http)(custom) TAR
GSE22651_non-normalized.txt.gz 37.1 Mb (ftp)(http) TXT
Processed data included within Sample table
Raw data is available on Series record

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