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

Joshua S Clayton; Christina Vo; Jordan Crane; Carolin K Scriba; Safaa Saker; Thierry Larmonier; Edoardo Malfatti; Norma B Romero; Gianina Ravenscroft; Nigel G Laing; Rhonda L Taylor

doi:10.1016/j.scr.2024.103411

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

Stem Cell Res. 2024 Mar 31:77:103411. doi: 10.1016/j.scr.2024.103411. Online ahead of print.

Authors

Affiliations

¹ Harry 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. Electronic address: joshua.clayton@perkins.org.au.
² Harry 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.
³ Harry 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.
⁴ Genethon, DNA and Cell Bank, 91000 Evry, France.
⁵ APHP, 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.
⁶ Sorbonne 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.

PMID: 38582058
DOI: 10.1016/j.scr.2024.103411

Abstract

RYR1 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.