GEO DataSets

(Submitter supplied) Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic genetic disease caused by mutations in the nuclear lamin A gene. In most cases the mutation creates an efficient donor-splice site that generates an altered transcript encoding a truncated lamin A protein, progerin. In vitro studies have indicated that progerin can disrupt nuclear function. HGPS affects mainly mesenchymal lineages but the shortage of patient material has precluded a tissue-wide molecular survey of progerin’s cellular impact. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL6883

23 Samples

Download data: TXT

(Submitter supplied) 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. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Dataset:

GDS3892

Platform:

GPL570

10 Samples

Download data: CEL

Analysis of iPSCs generated from fibroblasts from patients with Hutchinson-Gilford progeria syndrome (HGPS), a rare and fatal premature aging disease. Premature aging was recapitulated by differentiation of the HGPS-iPSCs. Results provide insight into molecular mechanisms underlying premature aging.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 3 cell line, 2 genotype/variation sets

Platform:

GPL570

Series:

GSE24487

10 Samples

Download data: CEL

(Submitter supplied) Hutchinson-Gilford Progeria Syndrome (HGPS) is a segmental premature aging disorder caused by the accumulation of the truncated form of Lamin A known as Progerin within the nuclear lamina. Cellular hallmarks of HGPS include nuclear blebbing, loss of peripheral heterochromatin, defective epigenetic inheritance, altered gene expression, and senescence. To model HGPS using iPSCs, detailed genome-wide and structural analysis of the epigenetic landscape is required to assess the initiation and progression of the disease.

Organism:

Homo sapiens

Type:

Genome binding/occupancy profiling by high throughput sequencing

Platform:

GPL10999

16 Samples

Download data: BED, TXT

(Submitter supplied) HGPS is a rare premature ageing disease, caused by a mutation in the LMNA gene, which activates a cryptic splice site, resulting in the production of a mutant lamin A isoform, called progerin. Sporadic usage of the same cryptic splice site has been observed with normal physiological aging. As it is unknown how HGPS causes premature ageing defects, we set out to determine the gene signature of both young healthy individuals, old healthy individuals, as well as HGPS patients.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

12 Samples

Download data: CEL

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Methylation profiling by array

Platforms:

GPL18573 GPL21145

41 Samples

Download data: IDAT

(Submitter supplied) Progeroid syndromes are rare genetic diseases with a majority of autosomal dominant transmission, the prevalence of which is less than 1 / 10,000,000. These syndromes caused by mutations in the LMNA gene encoding A-type Lamins belong to the group of disorders called laminopathies. Lamins are implicated in the architecture and function of the nucleus and  chromatin. Patients affected with progeroid laminopathies display accelerated ageing of mesenchymal stem cells (MSCs)-derived tissues associated with nuclear morphological abnormalities. more...

Organism:

Homo sapiens

Type:

Methylation profiling by array

Platform:

GPL21145

10 Samples

Download data: IDAT

(Submitter supplied) Progeroid syndromes are rare genetic diseases with a majority of autosomal dominant transmission, the prevalence of which is less than 1 / 10,000,000. These syndromes caused by mutations in the LMNA gene encoding A-type Lamins belong to the group of disorders called laminopathies. Lamins are implicated in the architecture and function of the nucleus and  chromatin. Patients affected with progeroid laminopathies display accelerated ageing of mesenchymal stem cells (MSCs)-derived tissues associated with nuclear morphological abnormalities. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL18573

31 Samples

Download data: CSV

(Submitter supplied) Hutchinson Gilford Progeria Syndrome is a premature aging disease caused by LMNA gene mutation and the production of a truncated lamin A protein “progerin” that elicits cellular and organismal toxicity. Progerin accumulates in the vasculature, being especially toxic for vascular smooth muscle cells (VSMC). Patients' autopsies show that vessel stiffening, and aortic atherosclerosis is accompanied by VSMC depletion in the medial layer, altered extracellular matrix (ECM), and thickening of the adventitial layer. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

8 Samples

Download data: XLSX

(Submitter supplied) Our goal was to identify gene expression and functional differences between directly reprogrammed vascular cells derived from young and old individuals, as wells as from healthy and Hutchinson-Gilford Progeria Syndrome (HGPS) donors. We provided a full characterization of reprogrammed endothelial and smooth muscle cells by comparing their gene expression with both the original fibroblasts and primary vascular cells, showing that reprogrammed cells express key vascular cell-identity genes and contribute to the formation of in vitro 3D vascular structures. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Third-party reanalysis

Platform:

GPL16791

45 Samples

Download data: XLSX

(Submitter supplied) Transcriptome analysis of vascular smooth muscle cells differentiated from iPS-derived neural crest stem cells in Moyamoya disease Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by steno-occlusive changes in the cerebral arteries at the base of the brain with unknown etiology, although histopathological features have demonstrated as fibrocellular thickening of the intima and medial thinning on the steno-occlusive arteries. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

6 Samples

Download data: CEL, CHP

(Submitter supplied) Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease with widespread phenotypic features resembling premature aging. HGPS was recently shown to be caused by dominant mutations in the LMNA gene, resulting in the in-frame deletion of 50 amino acids near the carboxyl terminus of the encoded lamin A protein. Children with this disease typically succumb to myocardial infarction or stroke caused by severe atherosclerosis at an average age of 13 years. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Datasets:

GDS1503 GDS1504

Platforms:

GPL97 GPL96

36 Samples

Download data: CEL

Expression profiling of three fibroblast cell lines derived from Hutchinson-Gilford progeria syndrome (HGPS) patients. Identified changes in gene expression may provide clues to potential risk factors or factors influencing disease progression.

Organism:

Homo sapiens

Type:

Expression profiling by array, count, 6 cell line, 2 disease state sets

Platform:

GPL97

Series:

GSE3860

18 Samples

Download data: CEL

Expression profiling of three fibroblast cell lines derived from Hutchinson-Gilford progeria syndrome (HGPS) patients. Identified changes in gene expression may provide clues to potential risk factors or factors influencing disease progression.

Organism:

Homo sapiens

Type:

Expression profiling by array, count, 6 cell line, 2 disease state sets

Platform:

GPL96

Series:

GSE3860

18 Samples

Download data: CEL

(Submitter supplied) Hutchinson-Gilford Progeria syndrome (HGPS or Progeria) is a rare and fatal genetic condition, characterized by premature aging symptoms in children and it affects approximately 1 in 4-8 million newborns. Individuals with HGPS appear to show aging-related phenotypes at a much faster rate than normal, leaving young children with the appearance and health conditions of an aged individual. This syndrome causes changes in various organs and systems such as the skin, skeleton, hair, body fat and cardiovascular system. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL17692

16 Samples

Download data: CEL, CHP

(Submitter supplied) Purpose: A systematic analysis of the transcriptomic profile of HGPS patient-derived fibroblasts, stratifying the analysis by comparing defined age groups to matched controls Methods: Total mRNA, acquired from Coriell Institute for Medical Research was submitted for RNA-seq library preparation and sequencing at Genewiz. Libraries were prepared using Illumina, RNA with PolyA selection approach, and then sequenced on a HiSeq instrument using 2x150 bp sequencing. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

11 Samples

Download data: TSV

(Submitter supplied) Aging increases the vulnerability to various diseases. The main goal of aging research is to find therapies that attenuate aging and alleviate aging-related diseases. In this study, we screened a nature product library for geroprotective compounds using Werner syndrome (WS) human mesenchymal stem cells (hMSCs), a premature aging model that we recently established. Ten candidate targets were identified and quercetin was further investigated due to its leading effects. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20795

4 Samples

Download data: TSV

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6193

81 Samples

Download data: CEL

(Submitter supplied) Exon level expression analysis for the HGPS pathological aging study data set to analyze the effect of progerin expression on alternative splicing in keratinocytes of HGPS mice. Analysis of the effect of pathological aging (transgenic progerin expression) on alternative splicing (AS) using exon microarrays to interrogate the differential exon usage of the entire genome of HGPS mice (postnatal day 24 and 35) and their wild-type litter mates. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6193

16 Samples

Download data: CEL

(Submitter supplied) Exon level expression analysis for the physiological aging study data set to analyze the effect of age on alternative splicing in different tissues and age groups of wild-type mice Analysis of the effect of age on alternative splicing (AS) using exon microarrays to interrogate the differential exon usage of the entire genome of aging wild-type male C57BL/6J mice (4- and 18-month-old) in five tissues (skin, skeletal muscle, bone, thymus, and white adipose tissue) and in an additional 28-month-old age group, which allowed for age-related AS analysis of the skin, skeletal muscle and bone tissues. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6193

65 Samples

Download data: CEL