biostudies-arrayexpressHomo sapienshttps://www.ebi.ac.uk/biostudies/studies/E-MTAB-10404Induced 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.biostudies-arrayexpressLibrary Construction - Ion AmpliSeq Transcriptome Human Gene Expression Panel was used for generation of the libraries.Sequencing - The libraries were sequenced on Ion Proton™ Sequencing System and BAM files are mapped against the reference hg19_AmpliSeq_Transcriptome_ERCC_v1Nucleic Acid Extraction - RNA was isolated using Chomczynski method.Sample Collection - Cells were detached with accutase, washed with PBS and lysed with Fenozol.MINSEQE ScoreAssays and DataorganisationMAGE-TAB FilesMetabolomicsUnknownTranscriptomicsGenomicsProteomicsIon Torrent ProtonRNA-seq of coding RNAHomo sapiensERP128809Neli Kachamakova-TrojanowskafalseGene profiling of human iPS-ECs with monoallelic and biallelic mutation in HNF1A gene as compared to isogenic hiPS-ECs control cellsInduced 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.2026-02-19T00:00:00Z2026-02-19T14:25:51.13Z2022-02-02T15:35:37.017ZE-MTAB-10404ERP128809EFO_0002944EFO_0004170EFO_0005518EFO_0003738EFO_0004184