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Transcriptome analysis of hiPSC-CMs carrying MYPN mutations

ABSTRACT: Transcriptome analysis of hiPSC-CMs carrying MYPN mutations

PROVIDER: PRJNA1308050 | ENA |

REPOSITORIES: ENA

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Transcriptome analysis of hiPSC-CMs carrying FLNC mutations

Project description:Transcriptome analysis of hiPSC-CMs carrying FLNC mutations

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Transcriptome analysis of hiPSC-CMs carrying FLNC mutations

Project description:In this study we performed transcriptome analysis of cardiomyocytes (CMs) derived from two hiPSC lines of patients with V2264M and R1267Q mutations in FLNC gene. hiPSC cell line were obtained from patient’s PBMCs with FLNC mutation using CytoTune-iPS 2.0 Sendai Reprogramming Kit (Thermo Fisher Scientific). Detailed information about iPSC line characterization can be found in hiPSCreg database: (FAMRCi011-A and FAMRCi009). Information about FAMRCi009 is earlier published DOI: 10.1016/j.scr.2021.102640.

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Transcriptome analysis of hiPSC-CMs carrying MYPN mutations

Project description:In this study we performed transcriptome analysis of cardiomyocytes (CMs) derived from hiPSC line of patient with hypertrophic cardiomyopathy (HCM) associated with a novel p.N989I (c.2966A>T) variant in MYPN gene. Detailed information about iPSC line characterization can be found in hiPSCreg database: FAMRCi015-A.

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Transcriptome alterations of hiPSC-CMs after alcohol treatment, alcohol and losartan co-treatment

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microRNA profile expression analysis of Human Induced Pluripotent Stem Cell-derived cardiomyocytes (hiPSC-CMs)

Project description:Analysis of the microRNA profile exression in hiPSC-CMs. Results provide important information of the miRNAs expressed in hiPSC-CMs under control conditions.

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Maturation of hiPSC-derived cardiomyocytes in tri-cellular cardiac microtissues promotes adult alternative splicing of SCN5A revealing effects of mutations in cardiac disease

Project description:Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are used to examine in vitro the effect of mutations in the cardiac sodium channel gene SCN5A, associated with cardiac arrhythmias. Postnatally SCN5A undergoes a fetal-to-adult isoform switch, but hiPSC-CMs in conventional 2-dimensional cultures are fetal-like. This impedes evaluation of mutations in the adult isoform. Here, we derived hiPSC-CMs from a patient carrying compound mutations in the adult SCN5A exon 6B and in exon 4 and generated isogenic corrected lines. In hiPSC-CM 2-dimensional culture, exon 6B mutation did not affect single-cell electrophysiology because of its limited expression. CRISPR/Cas9-mediated excision of the fetal exon 6A with did not promote adult SCN5A expression, rather it impaired the splicing. By maturing hiPSC-CMs in three-dimensional tri-cell type cardiac microtissues, SCN5A underwent isoform switch and revealed the functional effect of exon 6B mutation. Upregulation of the splicing factor MBNL1 in hiPSC-CMs either by culture in microtissues or by overexpression was sufficient to promote exon 6B inclusion. Our results support the ability to study developmentally regulated cardiac genes and postnatal cardiac arrhythmias using hiPSC cardiac cells.

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Bulk RNAseq analysis of hypertrophic cardiomyopathy (HCM) hiPSC-derived cardiomyocytes (hiPSC-CMs) and the isogenic control

Project description:To investigate HCM mutation-associated molecular details at the early stage of disease development, we performed bulk RNA-seq analysis at Day 15 of differentiation using RNA isolated from the isogenic control and mutant hiPSC-CMs. We performed pair-end sequencing with >30 million reads per sample with clean read counts of more than 96% for each sample.

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RNA-Seq transcriptome profiling of human iPS cell-derived cardiomyocytes (hiPSC-CMs) following overexpression (OE) of estrogen-related receptor gamma (ERRg)

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Alteration of N6-Methyladenosine mRNAMethylation in an hiPSC-CMs Model of TKI-induced cardiotoxicity

Project description:We performed a genome-wide analysis of m6A mRNA methylation in SUN-treated human pluripotent stem cells induced myocardial cells (hiPSC-CMs) by methylated RNA immunoprecipitation sequencing (MeRIP-seq).

2022-03-21 | GSE192913 | GEO

Gene expression profile in response to HIF-1α inhibition together with PPARα activation and the postnatal factors (T3, IGF-1 and dexamethasone) in hiPSC-CMs

Project description:Methods: RNA-seq libraries were prepared using the Illumina TruSeq technology. The libraries were quantified and samples were multiplexed in each lane of the flowcell. Cluster generation was performed and then sequenced on the Illumina HiSeq2500 system. Reads were mapped on the Human Genome Reference (GRCh38) and normalized expression table was generated. Results: Among differentially expressed genes, compared with DMSO-treated hiPSC-CMs, 505 genes were upregulated in FM+WY+TID-treated hiPSC-CMs, with 72 genes commonly upregulated in both FM+WY+TID-treated hiPSC-CMs and LV groups and 949 genes were downregulated in FM+WY+TID-treated hiPSC-CMs and 2137 genes were downregulated in LV, with 437 genes downregulated in both FM+WY+TID-treated hiPSC-CMs and LV compared with DMSO-treated hiPSC-CMs . Conclusions: Data demonstrate increased expression of genes associated with many metabolic processes which are also highly enriched in human pediatric heart samples including many interconnected metabolic processes that are upstream of lipid metabolism and FAO, agreeing with the shift to FAO for energy utilization in more mature CMs, and decreased expression of genes involved in developmental processes, adhesion and signaling in both FM+WY+TID-treated hiPSC-CMs and LV. The overlap in both upregulated and downregulated genes in both groups confirmed an advanced degree of cardiomyocyte maturation in response to FM+WY+TID.

2019-01-30 | GSE125862 | GEO

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