Establishment of three human induced pluripotent stem cell lines from a type 1 diabetic family harboring sequence variants associated with autoimmunity

从携带与自身免疫相关的序列变异的 1 型糖尿病家族中建立三种人类诱导性多能干细胞系

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作者:Edward Po-Fan Chu, Chia-Hung Lin, Candy Hsin-Hua Cho, I-Fen Cheng, Tzu-Chien Kuo, Ruei-Ying Chen, Chia-Nan Liao, Jen-Chien Cheng, Jason Isheng Tsai, Po-Chuan Wang, Shing-Jyh Chang, Chia-Ning Shen

Abstract

Type 1 diabetes (T1D) is characterized by the autoimmune destruction of insulin-producing β cells. Genetic studies have identified > 60 T1D risk loci that harbor genes with disease-causative alleles. However, determining the biological effects of such loci is often difficult due to limited tissue availability. Disease-specific human induced pluripotent stem cells (hiPSCs) are a valuable resource for modeling T1D pathogenesis. In particular, families with complete disease penetrance offer an opportunity to further dissect T1D risk loci. Here, we describe the generation of three hiPSC lines from a T1D family with sequence variants associated with autoimmunity.

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