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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Gene profiling of human iPS-ECs with monoallelic and biallelic mutation in HNF1A gene as compared to isogenic hiPS-ECs control cells

ABSTRACT: Induced pluripotent stem cells (iPSCs) provide a well-defined source of tissue-specific cells and are invaluable disease modeling tools. As HNF1A-MODY patients were shown to exhibit diabetic microvascular complications, their iPSCs can be used to derive endothelial cells (ECs) and investigate possible mechanisms contributing to the complications. However, the clinical phenotype of HNF1A-MODY diabetes varies considerably, and studies examining correlations between genotype and phenotype are still rare. Therefore, in the current study, we looked for possible endothelial dysfunction using iPSCs as disease modeling tools. HNF1A-MODY phenotype was modeled through the introduction of mutations in HNF1A gene in control human induced pluripotent stem cells (hiPSCs) lines, using CRISPR/Cas9, generating both monoallelic and biallelic mutation in HNF1A. The mutations resulted in premature stop codon of HNF1A gene. Subsequently, all lines were differentiated toward ECs (hiPSC-ECs), cell sorted to obtain pure population of CD31+/VE-cad+ cells, and used for global transcriptome analysis.

INSTRUMENT(S): Ion Torrent Proton

ORGANISM(S): Homo sapiens

SUBMITTER:

PROVIDER: E-MTAB-10404 | biostudies-arrayexpress |

SECONDARY ACCESSION(S): ERP128809

REPOSITORIES: biostudies-arrayexpress

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RNA-seq of hiPSC-ECs from HNF1A-MODY patient and corrected isogenic control lines

Project description:The experiment aims to find differences in gene expression in endothelial cells due to a heterozygous mutation in HNF1A, which cause maturity-onset diabetes of the young (MODY). For that purpose human induced pluripotent stem cell (hiPSCs) line from an HNF1A-MODY patient was repaired using CRISPR/Cas9, thus generating two isogenic (patient-specific) control lines. The hiPSCs from patient and the respective control lines were differentiated toward endothelial cells, and the gene expression in these cells was compared.

2026-02-22 | E-MTAB-16548 | biostudies-arrayexpress

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2016-08-04 | E-GEOD-74451 | biostudies-arrayexpress

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2011-01-01 | E-GEOD-22353 | biostudies-arrayexpress

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ECS

Project description:ECS

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Identification of a novel risk factor for intracranial aneurysms in ADPKD using iPSC models [Affymetrix]

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