Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA239827 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:To elucidate frequencies of genomic structural alterations, we performed an analysis using a SNP genotyping array (Illumina HumanCytoSNP-12 v2.1 DNA Analysis BeadChip Kit) for iPS cells derived from xeroderma pigmentosum patients (XP3OS, XP40OS, and XPEMB-1). Samples were collected after 10 to 25 passages to detect structural mutations occurred during the cell cultivation processes. Our results suggested a higher mutation rate of the iPS cells compared to those from normal cells.
2015-06-24 | GSE55520 | GEO
Project description:To elucidate frequencies of genomic structural alterations, we performed an analysis using a SNP genotyping array (Illumina HumanCytoSNP-12 v2.1 DNA Analysis BeadChip Kit) for iPS cells derived from xeroderma pigmentosum patients (XP3OS, XP40OS, and XPEMB-1). Samples were collected after 10 to 25 passages to detect structural mutations occurred during the cell cultivation processes. Our results suggested a higher mutation rate of the iPS cells compared to those from normal cells. The iPS-cell samples were collected after several passages togerther with their precursor cell samples and subjected to the SNP genotyping array. We searched for structural mutations occurred during the culture of the iPS cells.
2015-06-24 | E-GEOD-55520 | biostudies-arrayexpress
Project description:Xeroderma Pigmentosum (XP) is a rare autosomal genetic disease. XP patients present a default in the mechanism responsible for the repair of UV-induced DNA lesions. They are prone to develop skin cancers with high frequencies early in their life. To identify microenvironment factors that could contribute to the progression of skin cancers in XP-C group we did comparative transcriptomic analysis of WT and XP-C dermal patient’s fibroblasts.
2019-09-19 | GSE133084 | GEO
Project description:Xeroderma Pigmentosum (XP) is a DNA repair disorder characterized by photosensitivity, resulting in occurrence of freckle-like pigmented maculae and depigmented maculae on sun-exposed areas. XP complementation group A (XP-A) is the most frequent type in Japan, and patients with XP-A present most severe cutaneous and neurological symptoms due to nucleotide excision repair deficiency. Here, we established induced pluripotent stem cells (iPSCs) derived from XP-A patients and successfully differentiated into melanocytes. To elucidate the pathophysiology of XP, we comprehensively analyzed the difference in gene expression between XP-A-iMCs and healthy-control-iPSC-derived melanocytes (HC-iMCs) 4 hours and 12 hours after irradiation with 30 J/m2 or 150 J/m2 of UV-B using microarray analysis.
2022-01-01 | GSE185308 | GEO
Project description:Recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum C, are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the contributing role of the stromal microenvironment in the pathology of these disorders. To investigate common mechanisms that contribute to the pathogenic role played by dermal fibroblasts, we conducted a comparative gene expression analysis by RNA-Seq.
2019-03-12 | GSE119501 | GEO
Project description:UVB light mutagenesis in Xeroderma Pigmentosum C human cells
| PRJNA697944 | ENA
Project description:UVA light mutagenesis in xeroderma pigmentosum variant human cells
| PRJNA556825 | ENA
Project description:Xeroderma pigmentosum (XP) is caused by defective nucleotide excision-repair of DNA damage. This results in hypersensitivity to ultraviolet light and increased skin cancer risk, as sunlight-induced photoproducts remain unrepaired. However, many XP patients also display early-onset neurodegeneration, which leads to premature death. The mechanism of neurodegeneration is unknown. Here, we investigate XP neurodegeneration using pluripotent stem cells derived from XP patients and healthy relatives, performing functional multi-omics on samples during neuronal differentiation. We show substantially increased levels of 5',8-cyclopurine and 8-oxopurine in XP neuronal DNA secondary to marked oxidative stress. Furthermore, we find that the endoplasmic reticulum stress response is upregulated and reversal of the mutant genotype is associated with phenotypic rescue. Critically, XP neurons exhibit inappropriate downregulation of the protein clearance ubiquitin-proteasome system (UPS). Chemical enhancement of UPS activity in XP neuronal models improves phenotypes, albeit inadequately. Although more work is required, this study presents insights with intervention potential.
2024-04-18 | PXD047571 | Pride