{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:25:22Z","timestamp":1772252722870,"version":"3.50.1"},"reference-count":43,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Center","doi-asserted-by":"publisher","award":["2021\/43\/D\/NZ5\/01634"],"award-info":[{"award-number":["2021\/43\/D\/NZ5\/01634"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Excellence Initiative\u2014Research University","award":["2021\/43\/D\/NZ5\/01634"],"award-info":[{"award-number":["2021\/43\/D\/NZ5\/01634"]}]},{"name":"National Leading Scientific Center for Biotechnology from the Polish Ministry of Science","award":["2021\/43\/D\/NZ5\/01634"],"award-info":[{"award-number":["2021\/43\/D\/NZ5\/01634"]}]},{"name":"Polish Ministry of Science","award":["2021\/43\/D\/NZ5\/01634"],"award-info":[{"award-number":["2021\/43\/D\/NZ5\/01634"]}]},{"name":"Polish National Science Center MINIATURA 2","award":["2021\/43\/D\/NZ5\/01634"],"award-info":[{"award-number":["2021\/43\/D\/NZ5\/01634"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Emery\u2013Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene, which encodes the nuclear envelope protein emerin. Despite understanding the genetic basis of the disease, the molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress is restricted by the limited availability of patient-derived samples; therefore, there is an urgent need for human-specific cellular models. In this study, we present the generation and characterization of induced pluripotent stem cell (iPSC) lines derived from EDMD1 patients carrying EMD mutations that lead to truncated or absent emerin, together with iPSCs from healthy donor. The patient-specific iPSCs exhibit stable karyotypes, maintain appropriate morphology, express pluripotency markers, and demonstrate the ability to differentiate into three germ layers. To model EDMD1, these iPSCs were differentiated into myogenic progenitors, myoblasts, and multinucleated myotubes, which represent all stages of myogenesis. Each developmental stage was validated by the presence of stage-specific markers, ensuring the accuracy of the model. We present the first iPSC-based in vitro platform that captures the complexity of EDMD1 pathogenesis during myogenesis. This model can significantly contribute to understanding disease mechanisms and develop the targeted therapeutic strategies for EDMD1.<\/jats:p>","DOI":"10.3390\/ijms26041539","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T06:06:06Z","timestamp":1739340366000},"page":"1539","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3664-2844","authenticated-orcid":false,"given":"Marta","family":"Lisowska","sequence":"first","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3013-2613","authenticated-orcid":false,"given":"Marta","family":"Rowi\u0144ska","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6677-1084","authenticated-orcid":false,"given":"Aleksandra","family":"Suszy\u0144ska","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8218-9833","authenticated-orcid":false,"given":"Claudia","family":"Bearzi","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Technologies, National Research Council, 20054 Segrate, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izabela","family":"\u0141aczma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Genetics, Wroc\u0142aw Medical University, 50-368 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7538-0902","authenticated-orcid":false,"given":"Julia","family":"Hanusek","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Kunik","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volha","family":"Dzianisava","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryszard","family":"Rzepecki","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0118-6241","authenticated-orcid":false,"given":"Magdalena","family":"Machowska","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-2393","authenticated-orcid":false,"given":"Katarzyna","family":"Piekarowicz","sequence":"additional","affiliation":[{"name":"Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroc\u0142aw, 50-383 Wroc\u0142aw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Viggiano, E., Madej-Pilarczyk, A., Carboni, N., Picillo, E., Ergoli, M., del Gaudio, S., Marchel, M., Nigro, G., Palladino, A., and Politano, L. 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