Hazem Ibrahim, Diego Balboa, Jonna Saarimäki-Vire, Hossam Montaser, Oleg Dyachok, Per-Eric Lund, Muhmmad Omar-Hmeadi, Jouni Kvist, Om P Dwivedi, Väinö Lithovius, Tom Barsby, Vikash Chandra, Solja Eurola, Jarkko Ustinov, Tiinamaija Tuomi, Päivi J Miettinen, Sebastian Barg, Anders Tengholm, Timo Otonkoski
AIMS/HYPOTHESIS: Regulatory factor X 6 (RFX6) is crucial for pancreatic endocrine development and differentiation. The RFX6 variant p.His293LeufsTer7 is significantly enriched in the Finnish population, with almost 1:250 individuals as a carrier. Importantly, the FinnGen study indicates a high predisposition for heterozygous carriers to develop type 2 and gestational diabetes. However, the precise mechanism of this predisposition remains unknown. METHODS: To understand the role of this variant in beta cell development and function, we used CRISPR technology to generate allelic series of pluripotent stem cells...
May 14, 2024: Diabetologia