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Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

dc.contributor.authorJoshua S. Clayton
dc.contributor.authorChristina Vo
dc.contributor.authorJordan Crane
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.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.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.date.accessioned2024-04-07T04:35:24Z
dc.date.accessioned2025-10-08T09:19:25Z
dc.date.available2025-10-08T09:19:25Z
dc.date.issued01-06-2024
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/39926
dc.description.abstractRYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the transmembrane (pore) and SPRY3 protein domains (p.His4813Tyr and p.Asn1346Lys, respectively). Both lines had typical iPSC morphology, expressed canonical pluripotency markers, exhibited trilineage differentiation potential, and had normal karyotypes. Together with existing RYR1 iPSC lines, these represent important tools to study and develop treatments for RYR1-related myopathies.
dc.language.isoEN
dc.publisherElsevier
dc.subject.lccBiology (General)
dc.titleGeneration of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
dc.typeArticle
dc.description.doi10.1016/j.scr.2024.103411
dc.title.journalStem Cell Research
dc.identifier.oaioai:doaj.org/journal:a2f31142d3c04bd2b691d66e91321b37


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