{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T10:59:54Z","timestamp":1753181994590,"version":"3.40.5"},"reference-count":60,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T00:00:00Z","timestamp":1699488000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Deutsche Duchenne Stiftung, Duchenne Deutschland e.V","award":["F873-16"],"award-info":[{"award-number":["F873-16"]}]},{"name":"Deutsche Gesellschaft f\u00fcr Muskelkranke e.V","award":["F873-16"],"award-info":[{"award-number":["F873-16"]}]},{"DOI":"10.13039\/100017118","name":"FoRUM","doi-asserted-by":"crossref","award":["F873-16"],"award-info":[{"award-number":["F873-16"]}],"id":[{"id":"10.13039\/100017118","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Stem Cells International"],"published-print":{"date-parts":[[2023,11,9]]},"abstract":"<jats:p>Large numbers of Calpain 3 (CAPN3) mutations cause recessive forms of limb-girdle muscular dystrophy (LGMD2A\/LGMDR1) with selective atrophy of the proximal limb muscles. We have generated induced pluripotent stem cells (iPSC) from a patient with two mutations in exon 3 and exon 4 at the calpain 3 locus (W130C, 550delA). Two different strategies to rescue these mutations are devised: (i) on the level of LGMD2A-iPSC, we combined CRISPR\/Cas9 genome targeting with a FACS and Tet transactivator-based biallelic selection strategy, which resulted in a new functional chimeric exon 3-4 without the two CAPN3 mutations. (ii) On the level of LGMD2A-iPSC-derived CD82+\/Pax7+ myogenic progenitor cells, we demonstrate CRISPR\/Cas9 mediated rescue of the highly prevalent exon 4 CAPN3 mutation. The first strategy specifically provides isogenic LGMD2A corrected iPSC for disease modelling, and the second strategy can be further elaborated for potential translational approaches.<\/jats:p>","DOI":"10.1155\/2023\/9246825","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T23:35:07Z","timestamp":1699572907000},"page":"1-17","source":"Crossref","is-referenced-by-count":4,"title":["CRISPR\/Cas9 Genome Editing in LGMD2A\/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells"],"prefix":"10.1155","volume":"2023","author":[{"given":"Lampros","family":"Mavrommatis","sequence":"first","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Institute of Anatomy, Department of Anatomy and Molecular Embryology, 44801 Bochum, Germany"},{"name":"Ruhr University Bochum, Medical Faculty, Department of Neurology with Heimer Institute for Muscle Research, University Hospital Bergmannsheil, 44789 Bochum, Germany"},{"name":"Max Planck Institute for Molecular Biomedicine, Department of Cell and Developmental Biology, 48149 M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Zaben","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Institute of Anatomy, Department of Anatomy and Molecular Embryology, 44801 Bochum, Germany"},{"name":"Ruhr University Bochum, Medical Faculty, Department of Neurology with Heimer Institute for Muscle Research, University Hospital Bergmannsheil, 44789 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9676-6323","authenticated-orcid":true,"given":"Urs","family":"Kindler","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Institute of Anatomy, Department of Anatomy and Molecular Embryology, 44801 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-C\u00e9cile","family":"Kienitz","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Department of Cellular Physiology, 44801 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julienne","family":"Dietz","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Department of Neurology with Heimer Institute for Muscle Research, University Hospital Bergmannsheil, 44789 Bochum, Germany"},{"name":"Witten\/Herdecke University, Institute of Virology and Microbiology, Department of Human Medicine, Faculty of Health, 58453 Witten, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Woo","family":"Jeong","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Molecular Biomedicine, Sequencing Core Facility, 48149 M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"B\u00f6hme","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Department of Psychiatry, Psychotherapy and Preventive Medicine, LWL University Hospital Bochum, 44791 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beate","family":"Brand-Saberi","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Institute of Anatomy, Department of Anatomy and Molecular Embryology, 44801 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Vorgerd","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Department of Neurology with Heimer Institute for Muscle Research, University Hospital Bergmannsheil, 44789 Bochum, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8062-8428","authenticated-orcid":true,"given":"Holm","family":"Zaehres","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, Medical Faculty, Institute of Anatomy, Department of Anatomy and Molecular Embryology, 44801 Bochum, Germany"},{"name":"Max Planck Institute for Molecular Biomedicine, Department of Cell and Developmental Biology, 48149 M\u00fcnster, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.317.7164.991"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2005.008"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90368-2"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1086\/302426"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(01)76229-7"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh153"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.27.17073"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1411959111"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00029.2002"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)47225-6"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1016\/0065-227X(96)81667-4"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/8385"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1997.0108"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00143-7"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201414"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi217"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.7.1583"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.07.041"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3764"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-33923-4_7"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.108068"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2010.314"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(10)76018-3"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1305987110"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1008322108"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1126\/science.1231143"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2013.143"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124633"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3297"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2016.110"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1242\/dev.187344"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2021.04.048"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3192"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.4437"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.87081"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2773"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26742"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00006-2"},{"key":"39","doi-asserted-by":"publisher","DOI":"10.1179\/174313209X380847"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.1126\/science.1225829"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1126\/science.1232033"},{"key":"42","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2017.08.026"},{"key":"43","doi-asserted-by":"publisher","DOI":"10.1038\/srep38198"},{"key":"44","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792603"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2016.08.006"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2015.08.004"},{"key":"47","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2018.01.022"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-8897-6_1"},{"key":"49","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2016.40"},{"key":"50","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2019.08.011"},{"key":"51","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2014.10.004"},{"key":"52","doi-asserted-by":"publisher","DOI":"10.1038\/srep42991"},{"key":"53","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20058"},{"key":"54","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2013.10.007"},{"key":"55","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2012.02.015"},{"key":"56","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.06.005"},{"key":"57","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2014.07.001"},{"key":"58","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2020.04.017"},{"key":"59","doi-asserted-by":"publisher","DOI":"10.1172\/JCI63992"},{"key":"60","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2021.112844"}],"container-title":["Stem Cells International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/sci\/2023\/9246825.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/sci\/2023\/9246825.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/sci\/2023\/9246825.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T23:35:15Z","timestamp":1699572915000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/sci\/2023\/9246825\/"}},"subtitle":[],"editor":[{"given":"Yohei","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,11,9]]},"references-count":60,"alternative-id":["9246825","9246825"],"URL":"https:\/\/doi.org\/10.1155\/2023\/9246825","relation":{},"ISSN":["1687-9678","1687-966X"],"issn-type":[{"type":"electronic","value":"1687-9678"},{"type":"print","value":"1687-966X"}],"subject":[],"published":{"date-parts":[[2023,11,9]]}}}