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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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RNAseq of immune features in melanoma patients

ABSTRACT: RNAseq data from tumors obtained from melanoma patients with advanced disease and treated with anti-PD1 inhibitors.

INSTRUMENT(S): NextSeq 550

ORGANISM(S): Homo sapiens

SUBMITTER: Ricardo Ramos Ruiz

PROVIDER: E-MTAB-11729 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Capture-C experiments on auxin treated control (E14-Tir) and Scc1-AID, Ring1b-AID, Ring1b-AID-Scc1-AID and CTCF-AID (with and without a 6-hour auxin treatment) cells

Project description:The aim of the experiment was to gain a higher resolution for specific regions of interest to complement the Hi-C results. Capture-C experiments were performed on four-inducible degrons for Scc1, Ringb, Ring1b-Scc1 and CTCF, and Tir1 control, always in triplicates (three biological replicates per condition).

2020-01-23 | E-MTAB-7840 | biostudies-arrayexpress

Nucleosome positioning changes during cell reprogramming

Project description:Nucleosome positioning in a 2.3 Mb region of human chromosome 12 (chr12: 6,140,000-8,460,000) containing GAPDH and NANOG loci in human IMR90 fibroblasts (hFibs) and fibroblast-derived human induced pluripotent stem cell (hiPSCs).

2022-06-30 | E-MTAB-10074 | biostudies-arrayexpress

Chromatin structure changes during cell reprogramming

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2021-06-30 | E-MTAB-10073 | biostudies-arrayexpress

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy [Exome-Seq]

Project description:Phospholamban R14del mutazion (PLN-R14del) has been identified in a large family pedigree in which heterozygous carriers exhibited inherited dilated cardiomyopathy (DCM) and death by middle age. To better understand the causal link between the mutations in PLN and DCM pathology, we derived induced pluripotent stem cells from a DCM patient carrying the PLN R14del mutation. We showed that iPSC-derived cardiomyocytes recapitulated the DCM-specific phenotype and demonstrated that either TALEN-mediated genetic correction or combinatorial gene therapy resulted in phenotypic rescue. Our findings offer novel insights into the pathogenesis caused by mutant PLN and point to the development of potential new therapeutics of pathogenic genetic variants associated with inherited cardiomyopathies. Submitter confirms there are no patient privacy concerns with these data. iPSCs were derived from a female patient carrying a heterozygous mutation (R14del) in the PLN gene. Tree samples were analyzed: R14del-CMs (clone L2), corrected R14del-CMs (clone L2GC1) and corrected R14del-CMs (clone L2GC2)

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Whole exome sequencing of human MDS/AML OCI-M2 and patient-derived bone marrow cell lines treated with 5-azacytidine

Project description:The whole exome sequencing experiment is part of the study: “Analysis of 5-azacytidine resistance models reveals a set of targetable pathways”. In the study we generated myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) OCI-M2 cell lines as well as patient-derived bone marrow cell lines that are resistant to hypomethylating therapy by 5-azacytidine (AZA). By integrated analysis of expression and mutation data obtained from these samples we have identified multiple signaling pathways whose modulation by specific small molecule inhibitors significantly block proliferation of AZA-resistant cell lines without increasing their sensitivity to AZA. The understanding of the molecular mechanisms which characterize the AZA-R phenotype can be used for broadening therapeutic options at progressing states during AZA therapy.

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Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2015-02-09 | E-GEOD-65763 | biostudies-arrayexpress

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Mutation in familial platelet disorder with predisposition to myeloid malignancies

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TMC-SNPdb: An Indian germline variant dataset derived from whole exome sequence

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