Work

Generation of human induced pluripotent stem cell line derived from dilated cardiomyopathy with compound heterozygous TTN and TAB2 variants

Year: 2026

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.103916

Authors: Weihua Yuan, Qiang Gao, Xiwang Liu, Liyang Ying, Xicheng Zhang, Xiangming Fan

Institutions: Children's Hospital of Zhejiang University, Zhejiang University

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360