An Isogenic Human ESC Platform for Functional Evaluation of Genome-wide-Association-Study-Identified Diabetes Genes and Drug Discovery

Bhaskar Chanda Stem Cell Zeng et al. report functional evaluation of GWAS-identified candidate diabetes genes in an isogenic hESC-based platform. The authors find that biallelic mutations in CDKAL1, KCNQ1, and KCNJ11 caused impaired insulin secretion both in vitro and in vivo and identified the compound T5224, which rescued mutant CDKAL1-associated pancreatic beta cell defects by inhibiting the FOS/JUN pathway.

from Cell Stem Cell
via Bhaskar Chanda UHN


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