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

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.2024.103410

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

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

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Abstract

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.

Original language	English
Article number	103410
Number of pages	6
Journal	Stem Cell Research
Volume	77
DOIs	https://doi.org/10.1016/j.scr.2024.103410
Publication status	Published - Jun 2024

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10.1016/j.scr.2024.103410Licence: CC BY

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Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2024). 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. Stem Cell Research, 77, Article 103410. https://doi.org/10.1016/j.scr.2024.103410

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title = "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",

abstract = "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.",

author = "Clayton, {Joshua S.} and Christina Vo and Jordan Crane and Scriba, {Carolin K.} and Safaa Saker and Thierry Larmonier and Edoardo Malfatti and Romero, {Norma B.} and Gianina Ravenscroft and Laing, {Nigel G.} and Taylor, {Rhonda L.}",

year = "2024",

month = jun,

doi = "10.1016/j.scr.2024.103410",

language = "English",

volume = "77",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Clayton, JS, Vo, C, Crane, J, Scriba, CK, Saker, S, Larmonier, T, Malfatti, E, Romero, NB, Ravenscroft, G , Laing, NG & Taylor, RL 2024, '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', Stem Cell Research, vol. 77, 103410. https://doi.org/10.1016/j.scr.2024.103410

TY - JOUR

T1 - 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

AU - Clayton, Joshua S.

AU - Vo, Christina

AU - Crane, Jordan

AU - Scriba, Carolin K.

AU - Saker, Safaa

AU - Larmonier, Thierry

AU - Malfatti, Edoardo

AU - Romero, Norma B.

AU - Ravenscroft, Gianina

AU - Laing, Nigel G.

AU - Taylor, Rhonda L.

PY - 2024/6

Y1 - 2024/6

N2 - 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.

AB - 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.

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U2 - 10.1016/j.scr.2024.103410

DO - 10.1016/j.scr.2024.103410

M3 - Article

C2 - 38583293

AN - SCOPUS:85189812645

SN - 1873-5061

VL - 77

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103410

ER -

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

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