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Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

dc.contributor.authorKarrison Driver
dc.contributor.authorChristina Vo
dc.contributor.authorCarolin K. Scriba
dc.contributor.authorSafaa Saker
dc.contributor.authorThierry Larmonier
dc.contributor.authorEdoardo Malfatti
dc.contributor.authorNorma B. Romero
dc.contributor.authorGianina Ravenscroft
dc.contributor.authorNigel G. Laing
dc.contributor.authorRhonda L. Taylor
dc.contributor.authorJoshua S. Clayton
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherGenethon, DNA and Cell Bank, 91000 Evry, France
dc.contributor.otherGenethon, DNA and Cell Bank, 91000 Evry, France
dc.contributor.otherAPHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France
dc.contributor.otherSorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia
dc.contributor.otherHarry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Corresponding author at: Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.
dc.date.accessioned2023-11-29T04:24:06Z
dc.date.accessioned2025-10-08T08:49:03Z
dc.date.available2025-10-08T08:49:03Z
dc.date.issued01-12-2023
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/37454
dc.description.abstractCentral core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 33-year-old male with CCD, caused by a previously unreported dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene. Both lines demonstrated typical morphology, pluripotency, trilineage differentiation, and had a normal karyotype. As the first published iPSC model of CCD caused by an RYR1 variant these lines are a potential resource for further investigation of RYR1-related myopathies in a human context.
dc.language.isoEN
dc.publisherElsevier
dc.subject.lccBiology (General)
dc.titleGeneration of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
dc.typeArticle
dc.description.doi10.1016/j.scr.2023.103258
dc.title.journalStem Cell Research
dc.identifier.oaioai:doaj.org/journal:b7c641e3388f4b1b896aa00fec23de72


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