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Series GSE29772 Query DataSets for GSE29772
Status Public on Jul 26, 2011
Title CNV analysis for Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
Summary Patient-specific induced pluripotent stem cells (iPSCs) derived from somatic cells provide a unique tool for the study of human disease in disease relevant cells, as well as a promising source for cell replacement therapies for degenerative diseases. However one of the crucial limitations before realizing the full promise of this “disease in a dish” approach has been the inability to do controlled experiments under genetically defined conditions. This is particularly relevant for disorders with long latency periods, such as Parkinson’s disease (PD), where in vitro phenotypes of patient-derived iPSCs are predicted to be subtle and susceptible to significant epistatic effects of genetic background variations. By combining zinc-finger nuclease (ZFN)-mediated genome editing and iPSC technology we provide a generally applicable solution to this key problem by generating isogenic pairs of disease and control human embryonic stem cells (hESCs) and hiPSCs lines that differ exclusively at a susceptibility variant for PD by modifying a single point mutation (A53T) in the α-synuclein gene. The robust capability to genetically correct disease causing point mutations in patient-derived hiPSCs represents not only a significant progress for basic biomedical research but also a major advancement towards hiPSC-based cell replacement therapies using autologous cells.
 
Overall design ZFN-mediated genome edited human iPS cells or ES cells were assayed for genomic variation
 
Contributor(s) Soldner F, Cheng AW
Citation(s) 21757228
Submission date Jun 07, 2011
Last update date Nov 27, 2018
Contact name Albert W Cheng
E-mail(s) awcheng@mit.edu
Organization name Whitehead Institute
Street address Room 453, 9 Cambridge Center
City Cambridge
State/province MA
ZIP/Postal code 02139
Country USA
 
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (6)
GSM738137 WIBR3-IPS-SNCA-A53T(1lox)-6
GSM738138 WIBR3-IPS-SNCA-A53T-Corr-1
GSM738139 hESC BGO1
This SubSeries is part of SuperSeries:
GSE29774 Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
Relations
BioProject PRJNA153879

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
GSE29772_RAW.tar 387.4 Mb (http)(custom) TAR (of CEL, CNCHP)
Processed data included within Sample table
Processed data provided as supplementary file

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