Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
Summary
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. 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 Jun;77:103411 |
| PubMed | 38582058 |
| DOI | 10.1016/j.scr.2024.103411 |