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Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by 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.accessioned2024-04-08T04:08:16Z
dc.date.accessioned2025-10-08T09:19:23Z
dc.date.available2025-10-08T09:19:23Z
dc.date.issued01-06-2024
dc.identifier.urihttp://digilib.fisipol.ugm.ac.id/repo/handle/15717717/39922
dc.description.abstractRYR1 variants are the most common genetic cause of congenital myopathies, and typically cause central core disease (CCD) and/or malignant hyperthermia (MH). Here, we generated iPSC lines from two patients with CCD and MH caused by dominant RYR1 variants within the central region of the protein (p.Val2168Met and p.Arg2508Cys). Both lines displayed typical iPSC morphology, uniform expression of pluripotency markers, trilineage differentiation potential, and had normal karyotypes. These are the first RYR1 iPSC lines from patients with both CCD and MH. As these are common CCD/MH variants, these lines should be useful to study these conditions and test therapeutics.
dc.language.isoEN
dc.publisherElsevier
dc.subject.lccBiology (General)
dc.titleGeneration of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
dc.typeArticle
dc.description.doi10.1016/j.scr.2024.103410
dc.title.journalStem Cell Research
dc.identifier.oaioai:doaj.org/journal:83937e9ad64641f5b8a74afaa10b22c6


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