DOAJ Open Access 2024

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

Pierre Joanne Yeranuhi Hovhannisyan Alexandre Simon Gaëlle Revet Romain Diot +7 lainnya

Abstrak

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) using non-integrative vectors. For each patient, one IPSC clone was selected and demonstrated pluripotency hallmarks without genomic abnormalities. SNP profiles were identical to the cells of origin and all the clones have the capacity to differentiate into all three germ layers.

Topik & Kata Kunci

Biology (General)

Penulis (12)

Pierre Joanne

Yeranuhi Hovhannisyan

Alexandre Simon

Gaëlle Revet

Romain Diot

Gabriel Friob

Denisa Calin

Zhenlin Li

Anthony Béhin

Karim Wahbi

Gérard Tachdjian

Onnik Agbulut

Format Sitasi

APA MLA BibTeX

Joanne, P., Hovhannisyan, Y., Simon, A., Revet, G., Diot, R., Friob, G. et al. (2024). Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene. https://doi.org/10.1016/j.scr.2024.103338

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Informasi Jurnal

Tahun Terbit: 2024
Sumber Database: DOAJ
DOI: 10.1016/j.scr.2024.103338
Akses: Open Access ✓