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Series GSE28366 Query DataSets for GSE28366
Status Public on Sep 15, 2011
Title SNP data from genomic DNA from a subject, fibroblasts, iPSCs and neurons with four copies of SNCA, and genomic DNA from an unaffected first degree relative and equivalent cell lines
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary A major barrier to research on Parkinson’s disease (PD) is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells (iPSCs) from patients with PD and differentiate them into neurons affected by disease. We created an iPSC model of PD caused by triplication of SNCA encoding α-synuclein. α-Synuclein dysfunction is common to all forms of PD, and SNCA triplication leads to fully penetrant familial PD with accelerated pathogenesis. After differentiation of iPSCs into neurons enriched for midbrain dopaminergic subtypes, those from the patient contain double α-synuclein protein compared to those from an unaffected relative, precisely recapitulating the cause of PD in these individuals. A measurable biomarker makes this model ideal for drug screening for compounds that reduce levels of α-synuclein, and for mechanistic experiments to study PD pathogenesis.
This SNP microarray study was carried out to confirm presence of SNCA triplication in the affected subject and the derived cell lines.
Overall design 11 samples were analysed: genomic DNA from the two subjects in the study, the two parent fibroblast lines (AST denoting alpha-synuclein triplication and NAS denoting normal alpha-synuclein), two iPSC lines from each parent fibroblast line (four in total), a human embryonic stem cell line (SHEF4) and two neuronal samples one each from AST and NAS iPSCs).
Contributor(s) Devine MJ, Ryten M, Vodicka P, Thomson AJ, Houlden H, Burdon T, Cavaleri F, Drummond NJ, Nagano M, Taanman J, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T
Citation(s) 21863007
Submission date Apr 04, 2011
Last update date May 30, 2012
Contact name Tilo Kunath
Phone +44 (0) 131 651 9500
Organization name MRC Centre for Regenerative Medicine, Institute for Stem Cell Research
Department University of Edinburgh
Street address 5 LIttle France Drive
City Edinburgh
ZIP/Postal code EH16 4UU
Country United Kingdom
Platforms (1)
GPL8882 Illumina HumanOmni1-Quad BeadChip
Samples (11)
GSM701383 Unaffected (wild-type) subject
GSM701384 SNCA triplication subject
GSM701385 Wild-type fibroblasts
This SubSeries is part of SuperSeries:
GSE28367 Expression and SNP data from fibroblasts, iPSCs and neurons with four copies of SNCA, and equivalent cell lines from an unaffected first degree relative
BioProject PRJNA143169

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
GSE28366_SNP_Matrix_signal_intensities_MJD_GEOsubmission.txt.gz 164.7 Mb (ftp)(http) TXT
Raw data is available on Series record
Processed data included within Sample table

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