{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:06:41Z","timestamp":1790474801420,"version":"4.1.0"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T00:00:00Z","timestamp":1617321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002809","name":"Generalidad de Catalu\u00f1a","doi-asserted-by":"publisher","award":["2017-SGR-899"],"award-info":[{"award-number":["2017-SGR-899"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003086","name":"Basque Government","doi-asserted-by":"publisher","award":["2015111038"],"award-info":[{"award-number":["2015111038"]}],"id":[{"id":"10.13039\/501100003086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["RD16\/0011\/0024"],"award-info":[{"award-number":["RD16\/0011\/0024"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PS09\/00660"],"award-info":[{"award-number":["PS09\/00660"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI14\/00436"],"award-info":[{"award-number":["PI14\/00436"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019124","name":"Diputaci\u00f3n Foral de Gipuzkoa","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019124","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021566","name":"Fundaci\u00f3n Isabel Gemio","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021566","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Stem Cell Research"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1016\/j.scr.2021.102333","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T02:06:19Z","timestamp":1617847579000},"page":"102333","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Patient-specific iPSC-derived cellular models of LGMDR1"],"prefix":"10.1016","volume":"53","author":[{"given":"A.J.","family":"Mateos-Aierdi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Dehesa-Etxebeste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Goicoechea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Aiastui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Richaud-Patin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Jim\u00e9nez-Delgado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Raya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Naldaiz-Gastesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"L\u00f3pez de Munain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.scr.2021.102333_b0005","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.stem.2012.02.015","article-title":"Human ES-and iPS-derived myogenic progenitors restore DYSTROPHIN and improve contractility upon transplantation in dystrophic mice","volume":"10","author":"Darabi","year":"2012","journal-title":"Cell Stem Cell"},{"issue":"12","key":"10.1016\/j.scr.2021.102333_b0010","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1038\/nm.3990","article-title":"Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division","volume":"21","author":"Dumont","year":"2015","journal-title":"Nat. Med."},{"issue":"1","key":"10.1016\/j.scr.2021.102333_b0015","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/brain\/119.1.295","article-title":"Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island","volume":"119","author":"Fardeau","year":"1996","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.scr.2021.102333_b0020","doi-asserted-by":"crossref","first-page":"4047","DOI":"10.1128\/MCB.19.6.4047","article-title":"Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events","volume":"19","author":"Herasse","year":"1999","journal-title":"Mol. Cell. Biol."},{"issue":"1","key":"10.1016\/j.scr.2021.102333_b0025","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.stem.2015.05.015","article-title":"Quantification of retinogenesis in 3D cultures reveals epigenetic memory and higher efficiency in iPSCs derived from rod photoreceptors","volume":"17","author":"Hiler","year":"2015","journal-title":"Cell Stem Cell"},{"issue":"18","key":"10.1016\/j.scr.2021.102333_b0030","doi-asserted-by":"crossref","first-page":"4548","DOI":"10.3390\/ijms20184548","article-title":"Calcium mechanisms in limb-girdle muscular dystrophy with CAPN3 mutations","volume":"20","author":"Lasa-Elgarresta","year":"2019","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.scr.2021.102333_b0035","doi-asserted-by":"crossref","unstructured":"Lostal, W., Roudaut, C., Faivre, M., Charton, K., Suel, L., Bourg, N., Best, H., Smith, J.E., Gohlke, J., and Corre, G. (2019). Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A. Science translational medicine 11.","DOI":"10.1126\/scitranslmed.aat6072"},{"key":"10.1016\/j.scr.2021.102333_b0040","unstructured":"LOVD, 2020. LOVD v.3.0 \u2013 Leiden Open Variation Database. https:\/\/databases.lovd.nl\/shared\/genes\/CAPN3."},{"issue":"7","key":"10.1016\/j.scr.2021.102333_b0045","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/nprot.2015.057","article-title":"Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells","volume":"10","author":"Maffioletti","year":"2015","journal-title":"Nat. Protoc."},{"issue":"1","key":"10.1016\/j.scr.2021.102333_b0050","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0092-8674(95)90368-2","article-title":"Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A","volume":"81","author":"Richard","year":"1995","journal-title":"Cell"},{"issue":"5","key":"10.1016\/j.scr.2021.102333_b0055","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1002\/mus.23669","article-title":"Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation","volume":"47","author":"Rosales","year":"2013","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.scr.2021.102333_b0060","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1002\/mus.22194","article-title":"Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?","volume":"44","author":"S\u00e1enz","year":"2011","journal-title":"Muscle Nerve"},{"issue":"12","key":"10.1016\/j.scr.2021.102333_b0065","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.1016\/j.ymthe.2019.08.011","article-title":"Gene correction of LGMD2A patient-specific iPSCs for the development of targeted autologous cell therapy","volume":"27","author":"Selvaraj","year":"2019","journal-title":"Mol. Ther."},{"issue":"2","key":"10.1016\/j.scr.2021.102333_b0070","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.nmd.2015.11.012","article-title":"Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?","volume":"26","author":"Straub","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.scr.2021.102333_b0075","doi-asserted-by":"crossref","unstructured":"Straub, V., Murphy, A., Udd, B., Group, L.W.S., 2018. 229th ENMC international workshop: Limb girdle muscular dystrophies-Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscular disorders: NMD 28, 702.","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"10.1016\/j.scr.2021.102333_b0080","doi-asserted-by":"crossref","unstructured":"Swift, S., Lorens, J., Achacoso, P., Nolan, G.P., 1999. Rapid Production of Retroviruses for Efficient Gene Delivery to Mammalian Cells Using 293 T Cell\u2013Based Systems. Current protocols in immunology 31, 10.17. 14-10.17. 29.","DOI":"10.1002\/0471142735.im1017cs31"},{"issue":"12","key":"10.1016\/j.scr.2021.102333_b0085","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1038\/nm.2504","article-title":"Diseases in a dish: modeling human genetic disorders using induced pluripotent cells","volume":"17","author":"Tiscornia","year":"2011","journal-title":"Nat. Med."},{"key":"10.1016\/j.scr.2021.102333_b0090","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/brain\/121.9.1735","article-title":"Limb-girdle muscular dystrophy in Guip\u00fazcoa (Basque Country, Spain)","volume":"121","author":"Urtasun","year":"1998","journal-title":"Brain"},{"key":"10.1016\/j.scr.2021.102333_b0095","unstructured":"Walton, J.N., Karpati, G., and Hilton-Jones, D. (1994). Disorders of voluntary muscle, 6th edn (Edinburgh ; New York: Churchill Livingstone)."},{"key":"10.1016\/j.scr.2021.102333_b0100","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13395-017-0146-6","article-title":"Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis","volume":"7","author":"Yalvac","year":"2017","journal-title":"Skeletal Muscle"},{"issue":"23","key":"10.1016\/j.scr.2021.102333_b0105","doi-asserted-by":"crossref","first-page":"2413","DOI":"10.1056\/NEJMra043361","article-title":"Calpains and disease","volume":"352","author":"Zatz","year":"2005","journal-title":"N. Engl. J. Med."}],"container-title":["Stem Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506121001793?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1873506121001793?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T06:57:10Z","timestamp":1778828230000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1873506121001793"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":21,"alternative-id":["S1873506121001793"],"URL":"https:\/\/doi.org\/10.1016\/j.scr.2021.102333","relation":{},"ISSN":["1873-5061"],"issn-type":[{"value":"1873-5061","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Patient-specific iPSC-derived cellular models of LGMDR1","name":"articletitle","label":"Article Title"},{"value":"Stem Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.scr.2021.102333","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"102333"}}