Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

HipSci RNASEQ Retinitis Pigmentosa

ABSTRACT: The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform RNAseq on iPS lines from Retinitis Pigmentosa patients

PROVIDER: EGAS00001001996 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

HipSci HumanExome BeadChip analysis - Retinitis Pigmentosa

Project description:The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Genotyping analysis using the Infinium HumanExome BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Retinitis Pigmentosa.

| EGAS00001002015 | EGA

HipSci Whole Exome sequencing Retinitis Pigmentosa

Project description:The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we perform whole exome sequencing using Agilent whole exome pulldown method on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Retinitis Pigmentosa

| EGAS00001001984 | EGA

HipSci HumanHT 12 Expression BeadChip analysis - Retinitis Pigmentosa

Project description:The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Expression analysis using the Illumina HumanHT -12 Expression BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Retinitis Pigmentosa.

| EGAS00001002030 | EGA

HipSci Illumina 450K Methylation analysis _open access data for healthy volunteers

2015-11-16 | E-MTAB-4059 | biostudies-arrayexpress

HipSci HumanHT 12v4 Expression BeadChip analysis _open access data for healthy volunteers

2015-11-16 | E-MTAB-4057 | biostudies-arrayexpress

Inhibition of JNK ameliorates rod photoreceptor degeneration in a mouse model of retinitis pigmentosa

Project description:Retinitis pigmentosa (RP) is an inherited eye disease that causes progressive vision loss.To investigate the biological processes and molecular changes that occur in different cell types in the retinas in rd1 mice, a mouse model of retinitis pigmentosa, we performed single-cell RNA-seq to examine the transcriptomes of various retinal cells.

2024-06-23 | GSE261060 | GEO

Search for recessive retinitis pigmentosa genes using RNA expression analysis in lymphoblasts

Project description:Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Keywords: Recessive mutations; mRNA expression; nonsense mediated-decay; retinitis pigmentosa; lymphocyte; Affymetrix genechip Human Genome U133Plus2.0.

2008-07-14 | GSE12086 | GEO

Mutations in the Drosophila splicing regulator Prp31 as a model for Retinitis pigmentosa 11

Project description:A Drosophila mutant for the splicing factor Prp31 was generated and characterized as a model for Retinitis pigmentosa 11. The transcriptome of the mutant was compared to the genetic control white.

2019-01-01 | GSE99665 | GEO

RNA-seq of coding RNA in human fibroblasts, PBMCs and induced pluripotent stem cells (iPS cells) as part of the HipSci project

Project description:The Human Induced Pluripotent Stem Cells Initiative (HipSci) project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national induced pluripotent stem cell (iPS cell) resource and use it to carry out cellular genetic studies. In this sub-study we performed Expression analysis using the using RNAseq of fibroblasts, peripheral blood mononuclear cells (PBMCs) and induced pluripotent stem cells (iPS cells) generated from the skin biopsies or blood of healthy volunteers. This experiment includes the data and expands the metadata from two obsolete ArrayExpress accessions (E-ERAD-216 and E-ERAD-327) for use in the Expression Atlas. For samples derived from E-ERAD-216 the raw data is stored in the European Genome-Phenome Archive (EGA) and is subject to access control. Data from E-ERAD-327 is stored in the European Nucleotide Archive (ENA) and is publicly available.

2016-06-22 | E-MTAB-4748 | biostudies-arrayexpress

MicroRNA profiling of mouse wild type (C57) retina and a retina from a mouse model of retinitis pigmentosa (Pro347Ser)

Project description:Experiment to examine the miRNA profiles in the retina compared to the brain and other body regions. A comparison of a wild type C57 mouse retina versus a retina from a mouse model of retinitis pigmentosa (Pro347Ser) was under taken.

2007-11-22 | E-TABM-332 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data