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Article

Generation of one control and four iPSCs clones from patients with Emery-Dreifuss muscular dystrophy type 1.

Stem cell research - 1 Aug 2021

Machowska Magdalena, Bearzi Claudia, Piekarowicz Katarzyna, Łaczmańska Izabela, Rzepecki Ryszard

Abstract excerpt

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene coding for a nuclear envelope protein emerin. We generated and characterized induced pluripotent stem cells (iPSCs) from two EDMD1 patients bearing a mutation c.del153C and from one healthy donor. That mutation leads to generation of premature STOP codon. Established iPSCs are very valuable tool for...

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Identifiers

PMID: 34419748
DOI: 10.1016/j.scr.2021.102487

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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