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Article

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

Stem cell research - 1 Sept 2026

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

Abstract excerpt

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...

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Topics

Humans
Cardiomyopathy, Dilated
Connectin
Induced Pluripotent Stem Cells
Female
Cell Differentiation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Cell Line

Source

Open in PubMed Open full text

Identifiers

PMID: 42497776
DOI: 10.1016/j.scr.2026.104065
PMCID: PMC13629609

Genes

TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients with TTN mutations.PMID 42497776Read ↗

Generation of human induced pluripotent stem cell line derived from dilated cardiomyopathy with compound heterozygous TTN and TAB2 variants.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (SSMCi002-A) from a pediatric dilated cardiomyopathy patient carrying heterozygous mutation in the TTN gene.Semantic proximity Read ↗

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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.Semantic proximity Read ↗

Generation of an iPSC line (ZZUNEUi021-A) from a hypertrophic cardiomyopathy patient with TNNT2 mutation.Semantic proximity Read ↗

Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene.Semantic proximity Read ↗

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