PXD054791

PXD054791 is an original dataset announced via ProteomeXchange.

Title	Modelling complex cardiovascular disease in mature organoid model
Description	Cardiac maturation is an important developmental phase where there are profound biological and functional changes after birth in mammals. Herein, we use our profiling of human heart maturation in vivo to identify key drivers of maturation in our human cardiac organoid (hCO) model. In this dataset, we exemplified the applicability of our mature organoids in modelling cardiovascular disease. Pathogenesis of Desmoplakin (DSP) cardiomyopathies are driven by complex cellular interplay and changes in excitation-contraction coupling. A patient (MCHTB11), was screened against a 202 cardiac gene panel for clinically-relevant rare DNA variants (frequency < 0.04%). A homozygous 2 bp deletion was identified in the DSP gene, and recapitulated in our hCOs utilising CRISPR. In this screen, we also utilised INCB054329, a bromodomain extra-terminal inhibitor, to suppress diastolic dysfunction induced by the DSP mutant. In this dataset, we evaluate the proteomic remodelling induced by DSP-mutants (DSP) versus recovered mutants (CTRL), with and without INCB (n=3-4 for each group).
HostingRepository	PRIDE
AnnounceDate	2025-04-17
AnnouncementXML	Submission_2025-04-16_16:51:37.698.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Harley Robinson
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	deamidated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF; Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2024-08-11 18:47:09	ID requested
⏵ 1	2025-04-16 16:51:38	announced

Dataset with its publication pending

submitter keyword: cardiac organoids, maturation, DSP, cardiomyopathy

James Hudson
contact affiliation	Cardiac Bioengineering group, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
contact email	james.hudson@qimrberghofer.edu.au
lab head
Harley Robinson
contact affiliation	QIMR Berghofer Medical Research Institute
contact email	Harley.robinson@uqconnect.edu.au
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2025/04/PXD054791

PRIDE project URI

• PRIDE
  1. PXD054791
     1. Label: PRIDE project
     2. Name: Modelling complex cardiovascular disease in mature organoid model