{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:42:43Z","timestamp":1790214163807,"version":"4.1.0"},"reference-count":44,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2020,7,26]],"date-time":"2020-07-26T00:00:00Z","timestamp":1595721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Seventh Framework Programme","award":["241440"],"award-info":[{"award-number":["241440"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>In Duchenne muscular dystrophy (DMD) patients, absence of dystrophin causes muscle wasting by impacting both the myofiber integrity and the properties of muscle stem cells (MuSCs). Investigation of DMD encompasses the use of MuSCs issued from human skeletal muscle. However, DMD-derived MuSC usage is restricted by the limited number of divisions that human MuSCs can undertake in vitro before losing their myogenic characteristics and by the scarcity of human material available from DMD muscle. To overcome these limitations, immortalization of MuSCs appears as a strategy. Here, we used CDK4\/hTERT expression in primary MuSCs and we derived MuSC clones from a series of clinically and genetically characterized patients, including eight DMD patients with various mutations, four congenital muscular dystrophies and three age-matched control muscles. Immortalized cultures were sorted into single cells and expanded as clones into homogeneous populations. Myogenic characteristics and differentiation potential were tested for each clone. Finally, we screened various promoters to identify the preferred gene regulatory unit that should be used to ensure stable expression in the human MuSC clones. The 38 clonal immortalized myogenic cell clones provide a large collection of controls and DMD clones with various genetic defects and are available to the academic community.<\/jats:p>","DOI":"10.3390\/cells9081780","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T04:39:50Z","timestamp":1595824790000},"page":"1780","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals"],"prefix":"10.3390","volume":"9","author":[{"given":"Jimmy","family":"Massenet","sequence":"first","affiliation":[{"name":"Institut NeuroMyoG\u00e8ne, Universit\u00e9 Claude Bernard Lyon 1, Universit\u00e9 de Lyon, CNRS 5310, INSERM U1217, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Gitiaux","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, CNRS UMR8104, Universit\u00e9 Paris Descartes, Universit\u00e9 Sorbonne Paris Cit\u00e9, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Magnan","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, CNRS UMR8104, Universit\u00e9 Paris Descartes, Universit\u00e9 Sorbonne Paris Cit\u00e9, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Cuvellier","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, CNRS UMR8104, Universit\u00e9 Paris Descartes, Universit\u00e9 Sorbonne Paris Cit\u00e9, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud","family":"Hubas","sequence":"additional","affiliation":[{"name":"Laboratoire de Culture Cellulaire, Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires\u2014H\u00f4pital Cochin, APHP.5, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nusbaum","sequence":"additional","affiliation":[{"name":"Laboratoire de Culture Cellulaire, Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires\u2014H\u00f4pital Cochin, APHP.5, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6265-8102","authenticated-orcid":false,"given":"F Jeffrey","family":"Dilworth","sequence":"additional","affiliation":[{"name":"Sprott Center for Stem Cell Research, Ottawa Hospital Research Institute; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, CNRS UMR8104, Universit\u00e9 Paris Descartes, Universit\u00e9 Sorbonne Paris Cit\u00e9, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1262-502X","authenticated-orcid":false,"given":"B\u00e9n\u00e9dicte","family":"Chazaud","sequence":"additional","affiliation":[{"name":"Institut NeuroMyoG\u00e8ne, Universit\u00e9 Claude Bernard Lyon 1, Universit\u00e9 de Lyon, CNRS 5310, INSERM U1217, 69008 Lyon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,7,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/mus.23810","article-title":"Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy: Issues & Opinions: Newborn Screening for DMD","volume":"48","author":"Mendell","year":"2013","journal-title":"Muscle Nerve"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1097\/NEN.0b013e3181aa31c2","article-title":"Endomysial Fibrosis in Duchenne Muscular Dystrophy: A Marker of Poor Outcome Associated With Macrophage Alternative Activation","volume":"68","author":"Desguerre","year":"2009","journal-title":"J. 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