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Series GSE24487 Query DataSets for GSE24487
Status Public on Mar 14, 2011
Title Recapitulation of human premature aging by using iPSCs from Hutchinson-Gilford progeria syndrome
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature aging disease1-5, characterized by premature atherosclerosis and degeneration of vascular smooth muscle cells (SMCs)6-8. HGPS is caused by a single-point mutation in the LMNA gene, resulting in the generation of progerin, a truncated mutant of lamin A. Accumulation of progerin leads to various aging-associated nuclear defects including disorganization of nuclear lamina and loss of heterochromatin9-12. Here, we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with HGPS. HGPS-iPSCs show absence of progerin, and more importantly, lack the nuclear envelope and epigenetic alterations normally associated with premature aging. Upon differentiation of HGPS-iPSCs, progerin and its associated aging consequences are restored. In particular, directed differentiation of HGPS-iPSCs to SMCs leads to the appearance of premature senescent SMC phenotypes associated with vascular aging. Additionally, our studies identify DNA-dependent protein kinase catalytic subunit (DNAPKcs) as a component of the progerin-containing protein complex. The absence of nuclear DNAPKcs correlates with premature as well as physiological aging. Since progerin also accumulates during physiological aging6,12,13, our results provide an in vitro iPSC-based model with an acceleration progerin accumulation to study the pathogenesis of human premature and physiological vascular aging.
Overall design Microarray gene expression profiling was done to:
(1) Compare differences between WT fibroblasts and fibroblasts from patients suffering of the Hutchinson-Gilford progeria syndrome
(2) Check that iPSC originating from WT and patients are in fact similar to ESC
Contributor(s) Liu G, Barkho B, Ruiz S, Diep D, Yang S, Qu J, Kurian L, Walsh C, Panopoulos AD, Thompson J, Boue S, Fung H, Zhang K, Yates III J, Izpisua-Belmonte J
Citation(s) 21346760
Submission date Oct 01, 2010
Last update date Mar 25, 2019
Contact name Stephanie Boue
Organization name CMRB
Street address Dr Aiguader 88
City Barcelona
ZIP/Postal code 08003
Country Spain
Platforms (1)
GPL570 [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Samples (10)
GSM603015 BJ-fib_1
GSM603043 BJ-fib_2
GSM603044 HGPS Fibroblast replicate 1
BioProject PRJNA132521

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
GSE24487_RAW.tar 50.9 Mb (http)(custom) TAR (of CEL)
Raw data provided as supplementary file
Processed data included within Sample table

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