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.

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.

• Authors: 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
• Journal: Stem cell research (Stem Cell Res) Vol. 73 Pg. 103258 (Nov 22 2023) ISSN: 1876-7753 [Electronic] England
• PMID: 38029555 (Publication Type: Journal Article)
• Copyright: Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.