A novel human iPSC line was successfully generated from a DCM patient with TTN and TAB2 variants, providing a valuable in vitro model for investigating the pathogenic mechanisms of the disease.
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. Q3S5del (c. 9₁7del) 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.
Yuan et al. (Thu,) studied this question.