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Updated: Feb 7, 2026

In Vitro Generation of Somite Derivatives from Human Induced Pluripotent Stem Cells
Published on: April 25, 2019
Generation of human induced pluripotent stem cell line derived from dilated cardiomyopathy with compound heterozygous
Weihua Yuan1, Qiang Gao2, Xiwang Liu2
1Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou 310052, China.
Abstract:
Dilated cardiomyopathy (DCM) represents the most prevalent form of cardiomyopathy. Multiple genetic variants are linked to DCM severity. We have established a human induced pluripotent stem cell (iPSC) line derived from a DCM patient harboring the p.M17164T (c.51491T>C) and p.Y138C (c.413A>G) mutations in the Titin (TTN) gene, as well as the p.Q3_S5del (c.9_17del) deletion in the TAB2 gene. The established iPSCs exhibited a normal karyotype (46, XX) and expressed pluripotency markers, successfully differentiating into cardiomyocytes. This cell line serves as a valuable resource for investigating the pathogenic mechanisms underlying DCM associated with TTN and TAB2 variants.
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