Generation of a human induced pluripotent stem cell line (ZZUNEUi040-A) from a male patient with hypertrophic cardiomyopathy carrying a heterozygous TPM1 (c.644C > T) mutation.

Abstract

Tropomyosin 1 (TPM1) encodes tropomyosin alpha-1 chain, a key cardiac sarcomere component, while TPM1 mutations cause hypertrophic cardiomyopathy (HCM), a major cause of sudden cardiac death in the young. We generated the human iPSC line ZZUNEUi040-A from peripheral blood mononuclear cells of a 10-year-old male with non-obstructive asymmetric HCM carrying a heterozygous TPM1 c.644C > T (p.Ser215Leu) mutation via Sendai virus non-integrating reprogramming technology. The line showed normal karyotype (46,XY), undifferentiated hPSC-State markers, and trilineage differentiation potential, serving as a valuable model for HCM pathogenesis studies and drug screening.