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

Stem Cell Research 2026 Open access

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Authors: Weihua Yuan, Qiang Gao, Xiwang Liu, Liyang Ying, X C Zhang, X M Fan
DOI: 10.1016/j.scr.2026.103916
Cited by: 1
References: 5

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.

Fields of Study & Subjects

Cardiomyopathy and Myosin Studies Cardiac electrophysiology and arrhythmias Congenital heart defects research

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
91
Pages
103916–103916
Publication date
29 January 2026
Language
EN