GEO DataSets

Analysis of fibroblasts from patients with CCALD, the childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD). X-ALD is an early onset X-linked neurological disorder affecting the nervous, adrenocortical, and male reproductive systems. Results provide insight into molecular basis of CCALD.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 disease state sets

Platform:

GPL570

Series:

GSE34308

10 Samples

Download data: CEL

(Submitter supplied) Although not an affected cell type, skin fibroblasts from individuals with CC-ALD, an early onset X-linked neurological disorder, show defects in very long chain fatty acid (VLCFA) metabolism that provide the basis for clinical diagnostic tests. Skin fibroblasts from CC-ALD patients can be reprogrammed into iPS cells with all the hallmark properties of pluripotency. The iPS cell phenotypes may reflect the tissue-specificity of the lipid metabolic defects found in CC-ALD patients. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Dataset:

GDS4451

Platform:

GPL571

18 Samples

Download data: CEL

(Submitter supplied) Although not an affected cell type, skin fibroblasts from individuals with childhood cerebral adrenoleukodystrophy (CCALD), an early onset X-linked neurological disorder, show defects in very long chain fatty acid (VLCFA) metabolism that provide the basis for clinical diagnostic tests. We report the gene expression profiles of fibroblasts from childhood cerebral adrenoleukodystrophy patients and healthy controls

Organism:

Homo sapiens

Type:

Expression profiling by array

Dataset:

GDS4559

Platform:

GPL570

10 Samples

Download data: CEL

Analysis of induced pluripotent stem cells (iPSC) derived from childhood cerebral adrenoleukodystrophy (CCALD) patient dermal fibroblasts. Inflammatory brain demyelination is observed in CCALD patients. Results provide insight into molecular mechanisms underlying CCALD pathogenesis.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 cell type, 2 disease state sets

Platform:

GPL571

Series:

GSE34309

18 Samples

Download data: CEL

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

Organism:

Homo sapiens

Type:

Expression profiling by array; Methylation profiling by genome tiling array

Platforms:

GPL13534 GPL571

79 Samples

Download data: CEL

(Submitter supplied) Skin fibroblasts from individuals with PBD-ZSD, a rare autosomal recessive disorder caused by peroxisome assembly defects, show defects in lipid metabolism that provide the basis for clinical diagnostic tests, but are not among the cell types most affected by disease. To explore phenotypes of more clinically relevant cell types, skin fibroblasts from PBD-ZSD patients and healthy controls were reprogrammed into iPS cells with all the hallmark properties of pluripotency. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL571

3 Samples

Download data: CEL

(Submitter supplied) The goal of this study is to compare gene expression differences between induced brain microvascular endothelial cells from cerebral childhood adrenoleukodystrophy patients and wild-type controls

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL22790

18 Samples

Download data: TXT

(Submitter supplied) To gain molecular insight into the inflammatory phenotype of childhood cerebral adrenoleukodystrophy (CCALD), we performed microarray-based transcriptional profiling analysis of human embryonic stem cells (hESCs), control-induced pluripotent stem cells (iPSCs), adrenomyeloneuropathy (AMN)-iPSCs and CCALD-iPSCs.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL10558

12 Samples

Download data: TXT

(Submitter supplied) Orangutans are an endangered species whose natural habitats are restricted to the Southeast Asian islands of Borneo and Sumatra. For potential species conservation and functional genomics studies, we derived induced pluripotent stem cells (iPSCs) from cryopreserved skin fibroblasts obtained from captive orangutans. We report the gene expression profiles of iPSCs and skin fibroblasts derived from orangtuans.

Organism:

Pongo abelii; Homo sapiens

Type:

Expression profiling by array

Platform:

GPL571

8 Samples

Download data: CEL

(Submitter supplied) X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) and (iii) a childhood variant, cALD, characterized by severe cerebral demyelination. Loss of function of the ABCD1 peroxisomal fatty acid transporter and subsequent accumulation of very-long-chain fatty acids (VLCFAs) are the common culprits to all forms of X-ALD, an aberrant microglial activation accounts for the cerebral forms. How same mutation in the ABCD1 gene can lead to clinically very distinct phenotypes and what factors account for the dissimilar clinical outcomes and prognosis of X-ALD variants remain elusive. We wonder whether epigenetics mechanisms could answer the lack of genotype-phenotype correlation. We employed Illumina state of the art technology to analyze the differential methylation of over 485,000 CpG sites throughout the entire human genome and used stringent statistical criteria to define differential methylation patterns between brains of cALD, cAMN and age-matched controls. We identified a common X-ALD methylation signature comprising the hypermethylation in genes harboring the trimethylated histone H3K27me3 mark in their promoters, the hypermethylation for genes driven the oligodendrocyte lineage, and the hypomethylation for immune-associated genes. We also examined the methylated differences between cALD and cAMN resulting with differential immune response pathways and concordance methylation levels with phenotype severity. The detected methylation differences correlated with transcriptional and translational consequences, as supported by Affymetrix expression arrays, quantitative PCR and WB changes. The reliability of these changes was further demonstrated by validating DNA methylation by an independent pyrosequencing assay. From these evidences, we propose the altered transcriptional programs in oligodendrocyte differentiation in X-ALD patients. These observations may provide new therapeutic epigenetic agents.

Organism:

Homo sapiens

Type:

Methylation profiling by array

Platform:

GPL13534

34 Samples

Download data: TXT

(Submitter supplied) Background:Port wine birthmark (PWB) is a congenital vascular malformation resulting from developmentally defective endothelial cells (ECs). Developing clinically relevant disease models for PWB studies is currently an unmet need. Objective: Our study aims to generate PWB-derived induced pluripotent stem cells (iPSCs) and iPSC-derived ECs that preserve disease-related phenotypes. Methods: PWB iPSCs were generated by reprogramming lesional dermal fibroblasts and differentiated into ECs. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

23 Samples

Download data: XLS, XLSX

(Submitter supplied) In this study, we investigated its suitability for disease modeling by carrying out gene expression profiling, using RNA-seq, on neurons derived from iPSCs made from dental pulp extracted from deciduous teeth (T-iPSCs) and fibroblasts (F-iPSCs).

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

6 Samples

Download data: TXT

(Submitter supplied) Genetically matched human iPSCs from different origins were generated using bone marrow stromal cells and dermal fibroblasts of the same donor, and the global gene expression profile were analyzed.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL6244

14 Samples

Download data: CEL, TXT

(Submitter supplied) Klinefelter’s Syndrome (KS) is one of the common chromosome aneuploidy diseases in males with unexplained physiological mechanism. iPSCs, are similar to ESCs in terms of indefinitive self-renewal and pluripotency, provided an alternative choice for modeling disease to facilitate the disease research in vitro. We used microarray to detect the global reprogramming of KS and normal fibroblast cells to iPSCs. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL570

18 Samples

Download data: CEL

(Submitter supplied) Insulin resistance is central to diabetes and metabolic syndrome. To define the consequences of genetic insulin resistance distinct from those secondary to cellular differentiation or in vivo regulation, we generated induced pluripotent stem cells (iPSCs) from individuals with insulin receptor mutations and age-appropriate control subjects and studied insulin signaling and gene expression compared with the fibroblasts from which they were derived. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL15207

17 Samples

Download data: CEL

(Submitter supplied) Three genetically identical cells, NB1RGB human fibroblasts, C2 iPSCs generated from NB1RGB, and P1 keratinocytes differentiated from C2 iPSCs were treated with 50 mM alpha-glucosyl-rutin (AGR) for 4 hours. Total RNA was extracted and RNA sequencing was performed to investigate the effects of AGR on transcriptional change in stem cells and differentiated cells.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

6 Samples

Download data: CSV

(Submitter supplied) Here, we report the characterization and the comparison of the transcriptomes of BV-2 murine microglial mutant cell lines (CRISPR/Cas9-edited mutations in peroxisomal genes) by RNA-sequencing. Microglia is suspected to play a major role in the neurodegenerative processes observed in peroxisomal leukodystrophies. From CRISPR/Cas9-edited BV-2 microglial cell lines, we aimed at exploring the transcriptomic consequences of a defect of peroxisomal beta-oxidation.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL21103

15 Samples

Download data: TSV