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| 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
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| 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.
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| 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.
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| Contributor(s) |
Wang X, Hacia JG |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Feb 01, 2013 |
| Last update date |
Dec 06, 2018 |
| Contact name |
Joseph Gerard Hacia |
| E-mail(s) |
hacia@hsc.usc.edu
|
| Phone |
323-442-3030
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| Organization name |
University of Southern California
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| Department |
Biochemistry and Molecular Biology
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| Lab |
Hacia Lab
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| Street address |
2250 Alcazar Street, IGM 261
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| City |
Los Angeles |
| State/province |
CA |
| ZIP/Postal code |
90089 |
| Country |
USA |
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| Platforms (1) |
| GPL571 |
[HG-U133A_2] Affymetrix Human Genome U133A 2.0 Array |
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| Samples (35)
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| This SubSeries is part of SuperSeries: |
| GSE69103 |
Induced pluripotent stem cell models of Zellweger spectrum disorder show cell-type-specific lipid abnormalities |
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| Relations |
| BioProject |
PRJNA188315 |
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