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

Stem Cell Res. 2021 Aug 5;55:102487. doi: 10.1016/j.scr.2021.102487. Online ahead of print.ABSTRACTEmery-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.PMID:34419748 | DOI:10.1016/j.scr.2021.102487

Source: Cell Research - August 22, 2021 Category: Cytology Authors: Magdalena Machowska Claudia Bearzi Katarzyna Piekarowicz Izabela Łaczmańska Ryszard Rzepecki Source Type: research