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


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 disease pathogenesis investigation and for the development of new therapeutic methods after differentiation to cardiac or muscle cells. Obtained iPSCs show the proper morphology, pluripotency markers expression, normal karyotype and potential to differentiate into three germ layers. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Machowska M, Bearzi C, Piekarowicz K, Łaczmańska I, Rzepecki R
Journal Stem cell research
Publication Date 2021 Aug;55:102487
PubMed 34419748
DOI 10.1016/j.scr.2021.102487

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