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

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

doi:10.1016/j.scr.2023.103258

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

Stem Cell Res. 2023 Dec:73:103258. doi: 10.1016/j.scr.2023.103258. Epub 2023 Nov 22.

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.
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; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia.
³ Genethon, DNA and Cell Bank, 91000 Evry, France.
⁴ 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.
⁵ 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.
⁶ 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: [email protected].

PMID: 38029555
DOI: 10.1016/j.scr.2023.103258

Abstract

Central 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.

Publication types

Case Reports

MeSH terms

Adult
Humans
Induced Pluripotent Stem Cells* / metabolism
Male
Mutation
Myopathy, Central Core* / genetics
Myopathy, Central Core* / metabolism
Ryanodine Receptor Calcium Release Channel / genetics
Ryanodine Receptor Calcium Release Channel / metabolism

Substances

Ryanodine Receptor Calcium Release Channel