ZnT8 loss of function mutation increases resistance of human embryonic stem cell-derived beta cells to apoptosis in low zinc condition

• Main Authors: Sui, Lina, Du, Qian, Romer, Anthony, Su, Qi, Chabosseau, Pauline L., Xin, Yurong, Kim, Jinrang, Kleiner, Sandra, Rutter, Guy A., Egli, Dieter
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Stem Cell Biology; Stem Cell
• Online Access: https://hdl.handle.net/10356/169483
• Institution: Nanyang Technological University

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 m...