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This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disorder are unable to obtain energy from their glycogen stored in skeletal muscle, prompting an exercise intolerance. Currently, there is no treatment for this disease, and the lack of suitable in vitro human models has prevented the search for therapies against it. In this article, we have established the first human iPSC-based model for McArdle disease. For the generation of this model, induced pluripotent stem cells (iPSCs) from a patient with McArdle disease (harbouring the homozygous mutation c.148C&gt;T; p.R50* in the PYGM gene) were differentiated into myogenic cells able to contract spontaneously in the presence of motor neurons and generate calcium transients, a proof of their maturity and functionality. Additionally, an isogenic skeletal muscle model of McArdle disease was created. As a proof-of-concept, we have tested in this model the rescue of PYGM expression by two different read-through compounds (PTC124 and RTC13). The developed model will be very useful as a platform for testing drugs or compounds with potential pharmacological activity.<\/jats:p>","DOI":"10.3390\/ijms232213964","type":"journal-article","created":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T02:29:32Z","timestamp":1668392972000},"page":"13964","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9593-775X","authenticated-orcid":false,"given":"Mar\u00eda del Carmen","family":"Ortu\u00f1o-Costela","sequence":"first","affiliation":[{"name":"Grupo de Investigaci\u00f3n Traslacional con c\u00e9lulas iPS, Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Departamento de Bioqu\u00edmica, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones Biom\u00e9dicas \u201cAlberto Sols\u201d, (UAM-CSIC), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Cerrada","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n Traslacional con c\u00e9lulas iPS, Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Moreno-Izquierdo","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital 12 de Octubre, Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00e9s","family":"Garc\u00eda-Consuegra","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4474-9887","authenticated-orcid":false,"given":"Camille","family":"Laberthonni\u00e8re","sequence":"additional","affiliation":[{"name":"Aix-Marseille University, INSERM, MMG, 13385 Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4644-4873","authenticated-orcid":false,"given":"M\u00e9gane","family":"Delourme","sequence":"additional","affiliation":[{"name":"Aix-Marseille University, INSERM, MMG, 13385 Marseille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Garesse","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Facultad de Medicina, Universidad Aut\u00f3noma de Madrid, Instituto de Investigaciones 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2113-0600","authenticated-orcid":false,"given":"Gema","family":"Garc\u00eda Garc\u00eda","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Grupo de Investigaci\u00f3n en Biomedicina Molecular, Celular y Gen\u00f3mica, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe), 46029 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-9129","authenticated-orcid":false,"given":"Jos\u00e9 Mar\u00eda","family":"Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Grupo de Investigaci\u00f3n en Biomedicina Molecular, Celular y Gen\u00f3mica, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS 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