Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells

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Authors: Eva van Zanten, Elizabeth Loehrer, Joyce B. J. van Meurs, Roberto Narcisi, Joost Gribnau, Raymond A. Poot, HP Adams
Cited by: 5
References: 69

Abstract

Induced pluripotent stem cells (iPSCs) have emerged as a powerful tool in biomedical research, enabling the study of cellular function and early disease mechanisms within patient-specific genetic contexts. Traditionally, iPSCs have been used to model monogenic diseases, where highly penetrant variants produce robust cellular phenotypes detectable in few cell lines. Recent advances in scalability and standardisation now enable systematic comparisons across many donors. This development is particularly relevant for complex diseases, which are driven by numerous genetic variants with small individual effects and therefore require population-scale designs to resolve genotype-phenotype relationships. However, several limitations of iPSC technology continue to challenge the reliability and reproducibility of such studies, constraining their translational relevance. Here, we review the challenges and opportunities of using iPSCs to model complex diseases, structured around three key themes: detecting subtle effects, modelling environmental context, and expanding genetic diversity.

Fields of Study & Subjects

Pluripotent Stem Cells Research Single-cell and spatial transcriptomics CRISPR and Genetic Engineering

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
6
Pages
741–748
Publication date
31 March 2026
Language
EN