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

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

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HumansCardiomyopathy, DilatedConnectinInduced Pluripotent Stem CellsFemaleCell DifferentiationMutationCell LineJournal Article

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Jiawei Li, Anurendra Kumar, Yin-Tzu Chen, Yang Zhou, Victoria Parikh, Joseph C Wu. 2026-07-20. Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients with TTN mutations.. https://doi.org/10.1016/j.scr.2026.104065

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