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Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene.

Stem cell research - 1 Apr 2024

Joanne Pierre, Hovhannisyan Yeranuhi, Simon Alexandre, Revet Gaëlle, Diot Romain, Friob Gabriel, Calin Denisa, Li Zhenlin, Béhin Anthony, Wahbi Karim, Tachdjian Gérard, Agbulut Onnik

Abstract excerpt

Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them DES (encoding desmin) is the most frequently affected. Peripheral blood mononuclear cells from 5 different MFM patients with different DES mutations were reprogrammed into induced pluripotent stem cells (IPSC)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

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Identifiers

PMID: 38354647
DOI: 10.1016/j.scr.2024.103338

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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