Donor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitors

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Authors: Christa Ventresca, Arushi Varshney, Peter Orchard, Ha T.H. Vu, Yao-Chang Tsan, André Monteiro da Rocha, Michael R. Erdos, Stephen I. Lentz, Leena Kinnunen, Timo Antero Lakka, Jouko Saramies, Markku Laakso
+9 more Jaakko Tuomilehto, Karen L. Mohlke, Michael Boehnke, Laura J. Scott, Heikki A. Koistinen, Francis S. Collins, Todd J. Herron, Stephanie L. Bielas, Stephen C.J. Parker
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References: 62

Abstract

Summary Fibro-adipogenic progenitors (FAPs) in skeletal muscle have been implicated in type 2 diabetes (T2D), yet their heterogeneity and context-dependent regulation remain poorly understood. Here, we establish induced pluripotent stem cell (iPSC)-derived FAPs as a model of primary FAPs by leveraging a unique resource: iPSC lines and skeletal muscle biopsies obtained from 34 individuals, a subset of 30 profiled using single-nucleus multiomics. Donor-matched comparisons reveal iPSC-FAPs recapitulate the transcriptome, epigenome, and subtype composition of primary FAPs. Using single-nucleus multiomics, we show that high-insulin exposure drives iPSC-FAPs toward an adipogenic fate - and this adipogenic subtype is enriched for T2D GWAS signals, an enrichment undetectable at baseline. We map the T2D-associated rs3814707 non-coding signal to LTBP3 , a gene that influences FAP adipogenic differentiation. These findings reveal how disease-relevant regulatory mechanisms can be masked in unstimulated cells and establish iPSC-FAPs as a powerful platform for dissecting the state-dependent biology of complex metabolic disease.

Fields of Study & Subjects

Adipose Tissue and Metabolism Pluripotent Stem Cells Research Adipokines Inflammation and Metabolic Diseases

Publication details

Journal / source
bioRxiv (Cold Spring Harbor Laboratory)
Publication date
6 February 2026
Language
EN
Document type
Preprint