Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants


Diabetes, as one of the major diseases in industrial countries, affects over 350 million people worldwide. Type 1 (T1D) and type 2 diabetes (T2D) are the most common forms with both types having invariable genetic influence. It is accepted that a subset of all diabetes patients, generally estimated to account for 1-2% of all diabetic cases, is attributed to mutations in single genes. As only a subset of these genes has been identified and fully characterized, there is a dramatic need to understand the pathophysiological impact of genetic determinants on β-cell function and pancreatic development but also on cell replacement therapies. Pluripotent stem cells differentiated along the pancreatic lineage provide a valuable research platform to study such genes. This review summarizes current perspectives in applying this platform to study monogenic diabetes variants. Copyright © 2021 Heller, Melzer, Azoitei, Julier and Kleger.

Authors Heller S, Melzer MK, Azoitei N, Julier C, Kleger A
Journal Frontiers in endocrinology
Publication Date 2021;12:648284
PubMed 34079523
PubMed Central PMC8166226
DOI 10.3389/fendo.2021.648284

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