<HashMap><database>biostudies-arrayexpress</database><scores/><additional><submitter>Neli Kachamakova-Trojanowska</submitter><organism>Homo sapiens</organism><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/E-MTAB-16548</full_dataset_link><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.</description><repository>biostudies-arrayexpress</repository><sample_protocol>Sample Collection - After differentiation, the hiPSC-ECs from the patient isogenic set of lines (patient line and two isogenic control lines), were detached with Accutase on day 16 of the differentiation, washed with PBS, and lysed with Fenozol.</sample_protocol><sample_protocol>Sequencing - Libraries were sequenced on the NextSeq 2000 using the NextSeq 1000/2000 P2 XLEAP-SBS Reagent Kit (100 Cycles) and a 2x51 bp read mode.</sample_protocol><sample_protocol>Nucleic Acid Extraction - Cells from four independent differentiations were used for  RNA isolation using the Chomczynski method.</sample_protocol><sample_protocol>Library Construction - Libraries  were constructed using the Illumina Stranded mRNA Prep kit according to the manufacturer's protocol.</sample_protocol><figure_sub>Organization</figure_sub><figure_sub>MINSEQE Score</figure_sub><figure_sub>Assays and Data</figure_sub><figure_sub>Processed Data</figure_sub><figure_sub>MAGE-TAB Files</figure_sub><data_protocol>Data Transformation - RNA alignment and gene expression quantification were performed using the DRAGEN RNA v.4.2.7 for NextSeq 1000/2000.</data_protocol><omics_type>Metabolomics</omics_type><omics_type>Unknown</omics_type><omics_type>Transcriptomics</omics_type><omics_type>Genomics</omics_type><omics_type>Proteomics</omics_type><instrument_platform>C1000 Touch PCR thermal cycler (Bio-Rad)</instrument_platform><instrument_platform>NextSeq 2000</instrument_platform><study_type>RNA-seq of coding RNA</study_type><species>Homo sapiens</species><pubmed_title>Integrated transcriptome and proteome analyses unveil cytoskeletal alterations in an endothelial model of monogenic diabetes</pubmed_title><pubmed_authors>Neli Kachamakova-Trojanowska</pubmed_authors><pubmed_authors>Skoczek, D., Kloska, D., Targosz-Korecka, M., Szade, K., Biela, A., Hohendorff, J., Babincak, M., Kopacz, A., Malecki, M. T., Stepniewski, J., &amp; Kachamakova-Trojanowska, N</pubmed_authors></additional><is_claimable>false</is_claimable><name>RNA-seq of hiPSC-ECs from HNF1A-MODY patient and corrected isogenic control lines</name><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.</description><dates><release>2026-02-22T00:00:00Z</release><modification>2026-05-27T16:58:23.939Z</modification><creation>2026-01-20T14:40:23.886Z</creation></dates><accession>E-MTAB-16548</accession><cross_references><ENA>ERP187935</ENA><EFO>EFO_0002944</EFO><EFO>EFO_0004170</EFO><EFO>EFO_0005518</EFO><EFO>EFO_0003816</EFO><EFO>EFO_0003738</EFO><EFO>EFO_0004184</EFO></cross_references></HashMap>