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Related Concept Videos

EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

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Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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Related Experiment Video

Updated: May 21, 2025

Generation of Human Cardiomyocytes: A Differentiation Protocol from Feeder-free Human Induced Pluripotent Stem Cells
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Dissecting cardiovascular disease-associated noncoding genetic variants using human iPSC models.

Saif F Dababneh1, Hosna Babini2, Verónica Jiménez-Sábado2

  • 1Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada; Cellular and Regenerative Medicine Centre, BC Children's Hospital Research Institute, 938 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada.

Stem Cell Reports
|March 21, 2025
PubMed
Summary
This summary is machine-generated.

Genetic variants in noncoding DNA impact cardiovascular disease risk by altering gene expression. Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) help uncover how these variants cause disease.

Keywords:
cardiomyocytescardiovascular diseaseepigeneticsgeneticsiPSCsnoncoding variantsregulatory elements

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Area of Science:

  • Genomics
  • Cardiovascular Disease Research
  • Stem Cell Biology

Background:

  • Genomic studies identify numerous cardiovascular disease (CVD) loci, with most variants in noncoding regions.
  • Noncoding variants influence gene regulation by affecting transcription factor binding and chromatin accessibility.
  • Understanding noncoding variant effects is crucial for elucidating CVD pathogenesis.

Purpose of the Study:

  • To review the role of noncoding variants in cardiovascular disease pathogenesis.
  • To discuss methodologies for studying noncoding variants.
  • To highlight the utility of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) in this research.

Main Methods:

  • Review of current literature on noncoding variants and CVD.
  • Discussion of techniques for variant pathogenicity assessment.
  • Focus on the application of hiPSC-CMs as a model system.

Main Results:

  • Noncoding variants significantly contribute to CVD risk through regulatory mechanisms.
  • hiPSC-CMs provide a human-specific cellular model to study variant effects.
  • Integration of genomics and stem cell models enhances mechanistic understanding.

Conclusions:

  • Noncoding variants are key players in cardiovascular disease development.
  • hiPSC-CMs are invaluable for dissecting the functional impact of these variants.
  • This approach advances our understanding of genetic contributions to heart disease.