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ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition.

Cells - 15 Mar 2023

Sui Lina, Du Qian, Romer Anthony, Su Qi, Chabosseau Pauline L, Xin Yurong, Kim Jinrang, Kleiner Sandra, Rutter Guy A, Egli Dieter

Abstract excerpt

The rare SLC30A8 mutation encoding a truncating p.Arg138* variant (R138X) in zinc transporter 8 (ZnT8) is associated with a 65% reduced risk for type 2 diabetes. To determine whether ZnT8 is required for beta cell development and function, we derived human pluripotent stem cells carrying the R138X mutation and differentiated them into insulin-producing cells. We found that human pluripotent stem cells with...

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Identifiers

PMID: 36980244
DOI: 10.3390/cells12060903
PMCID: PMC10047077

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