Advances in human induced pluripotent stem cell (hiPSC)-based disease modelling in cardiogenetics

Human induced pluripotent stem cell (hiPSC)-based disease modelling has significantly advanced the field of cardiogenetics, providing a precise, patient-specific platform for studying genetic causes of heart diseases. Coupled with genome editing technologies such as CRISPR/Cas, hiPSC-based models no...

Full description

Saved in:
Bibliographic Details
Main Authors: Seeger, Timon (Author) , Hoffmann, Sandra (Author)
Format: Article (Journal)
Language:English
Published: 8. April 2025
In: Medizinische Genetik
Year: 2025, Volume: 37, Issue: 2, Pages: 137-146
ISSN:1863-5490
DOI:10.1515/medgen-2025-2009
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1515/medgen-2025-2009
Verlag, kostenfrei, Volltext: https://www.degruyterbrill.com/document/doi/10.1515/medgen-2025-2009/html
Get full text
Author Notes:Timon Seeger, Sandra Hoffmann
Description
Summary:Human induced pluripotent stem cell (hiPSC)-based disease modelling has significantly advanced the field of cardiogenetics, providing a precise, patient-specific platform for studying genetic causes of heart diseases. Coupled with genome editing technologies such as CRISPR/Cas, hiPSC-based models not only allow the creation of isogenic lines to study mutation-specific cardiac phenotypes, but also enable the targeted modulation of gene expression to explore the effects of genetic and epigenetic deficits at the cellular and molecular level. hiPSC-based models of heart disease range from two-dimensional cultures of hiPSC-derived cardiovascular cell types, such as various cardiomyocyte subtypes, endothelial cells, pericytes, vascular smooth muscle cells, cardiac fibroblasts, immune cells, etc., to cardiac tissue cultures including organoids, microtissues, engineered heart tissues, and microphysiological systems. These models are further enhanced by multi-omics approaches, integrating genomic, transcriptomic, epigenomic, proteomic, and metabolomic data to provide a comprehensive view of disease mechanisms. In particular, advances in cardiovascular tissue engineering enable the development of more physiologically relevant systems that recapitulate native heart architecture and function, allowing for more accurate modelling of cardiac disease, drug screening, and toxicity testing, with the overall goal of personalised medical approaches, where therapies can be tailored to individual genetic profiles. Despite significant progress, challenges remain in the maturation of hiPSC-derived cardiomyocytes and the complexity of reproducing adult heart conditions. Here, we provide a concise update on the most advanced methods of hiPSC-based disease modelling in cardiogenetics, with a focus on genome editing and cardiac tissue engineering.
Item Description:Gesehen am 28.08.2025
Physical Description:Online Resource
ISSN:1863-5490
DOI:10.1515/medgen-2025-2009