Reduced Calcium Levels and Accumulation of Abnormal Insulin Granules in Stem Cell Models of HNF1A Deficiency

Using stem cell-derived pancreatic endocrine cells with hypomorphic mutations in HNF1A, the authors demonstrated that HNF1A-deficient β-cells displayed impaired basal and glucose stimulated-insulin secretion, reduced intracellular calcium levels in association with a reduction in CACNA1A expression, and accumulation of abnormal insulin granules in association with SYT13 down-regulation.
[Communications Biology]
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