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| 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
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| 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.
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| 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).
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| 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 |
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| Submission date |
Apr 04, 2011 |
| Last update date |
May 30, 2012 |
| Contact name |
Tilo Kunath |
| E-mail(s) |
tilo.kunath@ed.ac.uk
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| Phone |
+44 (0) 131 651 9500
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| Organization name |
University of Edinburgh
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| Department |
Centre for Regenerative Medicine
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| Street address |
5 LIttle France Drive
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| City |
Edinburgh |
| ZIP/Postal code |
EH16 4UU |
| Country |
United Kingdom |
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| Platforms (1) |
| GPL8882 |
Illumina HumanOmni1-Quad BeadChip |
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| Samples (11)
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| 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 |
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| Relations |
| BioProject |
PRJNA143169 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE28366_SNP_Matrix_signal_intensities_MJD_GEOsubmission.txt.gz |
164.7 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
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