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
Summary
RYR1 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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar 30;77:103410 |
| PubMed | 38583293 |
| DOI | 10.1016/j.scr.2024.103410 |