Work

Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients with TTN mutations

Year: 2026

Type: article

Abstract: Titin (TTN) encodes the largest protein in the human body and is essential for sarcomere assembly and muscle mechanosensation. Truncating TTN mutations are a leading cause of dilated cardiomyopathy (DCM). Here, we generated two induced pluripotent stem cell (iPSC) lines from female DCM patients, each carrying a heterozygous nonsense point mutation that produces a truncated titin protein. Both lines were reprogrammed from peripheral blood mononuclear cells (PBMCs) and characterized for expression of undifferentiated human iPSC state markers, tri-lineage differentiation capacity, and genomic integrity by copy-number analysis. These lines provide a patient-derived platform for investigating the mechanobiological basis of titin-truncation DCM in vitro.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.104065

Authors: Jiawei Li, Anurendra Kumar, Yin-Tzu Chen, Yang Zhou, Victoria Parikh, Joseph C. Wu

Institutions: Stanford Cardiovascular Institute, Stanford University, Stanford Medicine

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