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Series GSE43996 Query DataSets for GSE43996
Status Public on Mar 24, 2015
Title Gene expression profiles of fibroblasts and induced pluripotent stem cells (iPSCs) from individuals with Zellweger spectrum disorder (ZSD), a class of peroxisome biogenesis disorder, and healthy controls
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Zellweger spectrum disorder (PBD-ZSD) is a disease continuum caused by mutations in a subset of PEX genes required for normal peroxisome assembly and function. Their clinical manifestations highlight the importance of peroxisomes in the development and functions of the central nervous system, liver, and other organs. We reprogrammed skin fibroblasts from PBD-ZSD patients into induced pluripotent stem cells (iPSCs) and report their gene expression profiles as well as those of matching healthy controls.
Overall design Dermal fibroblast cultures from 6 PBD-ZSD patient and 3 healthy control donors were reprogrammed into iPSCs by transfection with retroviruses designed to express the human OCT4, SOX2, KLF4 and c-MYC genes. Fibroblasts and iPSCs were cultured in 1:1 ratio of DMEM:F12 medium supplemented with 20% KSR at 37°C with 5% CO2 until confluence for RNA extraction. The overall goal was to identify genes that are differentially expressed between PBD-ZSD patient and healthy control cells in order to gain insights into the pathomechanisms of disease.
Contributor(s) Wang X, Hacia JG
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Submission date Feb 01, 2013
Last update date Dec 06, 2018
Contact name Joseph Gerard Hacia
Phone 323-442-3030
Organization name University of Southern California
Department Biochemistry and Molecular Biology
Lab Hacia Lab
Street address 2250 Alcazar Street, IGM 261
City Los Angeles
State/province CA
ZIP/Postal code 90089
Country USA
Platforms (1)
GPL571 [HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array
Samples (35)
GSM1076218 Control1 Fibroblast
GSM1076219 Control2 Fibroblast
GSM1076220 Control3 Fibroblast
This SubSeries is part of SuperSeries:
GSE69103 Induced pluripotent stem cell models of Zellweger spectrum disorder show cell-type-specific lipid abnormalities
BioProject PRJNA188315

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
GSE43996_RAW.tar 65.7 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table

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