GEO DataSets

(Submitter supplied) Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease characterized by increased expression of interferon-stimulated genes (ISGs). Disease-causing mutations are present in genes associated with innate antiviral responses. Disease presentation and severity vary, even between patients with identical mutations from the same family. This study investigated DNA methylation signatures in PBMCs to understand phenotypic heterogeneity in AGS patients with mutations in RNASEH2B. more...

Organism:

Homo sapiens

Type:

Methylation profiling by array

Platform:

GPL21145

17 Samples

Download data: IDAT, TXT

(Submitter supplied) Aicardi-Goutières syndrome (AGS) is a severe childhood inflammatory disorder that shows clinical and genetic overlap with systemic lupus erythematosus (SLE). AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations in nucleic acid degrading enzymes TREX1 (AGS1), RNase H2 (AGS2, 3 and 4) and SAMHD1 (AGS5). However, the identity and source of such immunogenic nucleic acid species remain undefined. more...

Organism:

Homo sapiens

Type:

Other; Expression profiling by high throughput sequencing; Methylation profiling by high throughput sequencing

Platform:

GPL11154

33 Samples

Download data: BED, TXT, WIG

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

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Genome variation profiling by high throughput sequencing

Platforms:

GPL18573 GPL24676 GPL15520

24 Samples

Download data: MTX, TSV, VCF

(Submitter supplied) We generated iPS cells knock out (KO) for two Aicardi Goutières syndrome genes, TREX1 and RNASEH2b to model the disease in a human neurological context. However, it has been reported that after precise genome engineering human iPSCs may show severe alterations of the p53 gene. With the aim to evaluate the genome engeneering impact on the p53 pathway in the CRISPR-CAS9 knock out clones we verified integrity of the p53 genome sequence after gene editing.

Organism:

Homo sapiens

Type:

Genome variation profiling by high throughput sequencing

Platform:

GPL15520

3 Samples

Download data: VCF

(Submitter supplied) We generated iPS cells knock out (KO) for two Aicardi Goutières syndrome genes, TREX1 and RNASEH2b to model the disease in a human neurological context. Their transcriptomes were analyzed at several differentiation stages: iPSC-derived Neural Stem Cells, iPSC-derived proinflammatory astrocytes and iPSC-derived neurons. We then evaluated when and to which extent the AGS-related transcriptional alterations arised in all KO and WT cells.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL24676

18 Samples

Download data: TXT

(Submitter supplied) The contribution of the different CNS cell types to Aicardi-Goutiéres Syndrome pathogenesis is still unclear. With the aim to elucidate how oligodendrocytes, neurons and astrocytes impact AGS human phenotype we interrogate transcriptomes of the different cell populations performing single-cell RNA-Seq (scRNASeq). We compared cells deriving from AGS patient-derived iPSC harboring mutations in TREX1 (AGS1) or RNASEH2B (AGS2) to healthy donor control (WT) cells differentiated into mixed neuronal/glial cell populations.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL18573

3 Samples

Download data: MTX, TSV

(Submitter supplied) In mammalian cells, the catabolic activity of the dNTP triphosphohydrolase SAMHD1 sets the balance and the concentrations of the four dNTPs. Deficiency of SAMHD1 leads to unequally increased pools and marked dNTP imbalance. Although it is documented that imbalanced dNTP pool expansion increases mutation frequency in cancer cells, it is not known if the SAMHD1-induced dNTP imbalance favors accumulation of somatic mutations in non-transformed cells. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL17077

16 Samples

Download data: TXT

(Submitter supplied) Assessing differential gene expression in Rnaseh2b null (p53-/-, Rnaseh2b -/-) murine embryonic fibroblasts (MEF) vs control (p53-/-, Rnaseh2b +/+) .

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6887

6 Samples

Download data: TXT