Generation of two iPSC lines from adult central core disease patients with 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.2024.103411

Generation of two iPSC lines from adult central core disease patients with 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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	103411
Journal	Stem Cell Research
Volume	77
DOIs	https://doi.org/10.1016/j.scr.2024.103411
Publication status	Published - Jun 2024

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title = "Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene",

abstract = "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.",

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.}",

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year = "2024",

month = jun,

doi = "10.1016/j.scr.2024.103411",

language = "English",

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journal = "Stem Cell Research",

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TY - JOUR

T1 - Generation of two iPSC lines from adult central core disease patients with 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 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.

AB - 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.

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DO - 10.1016/j.scr.2024.103411

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VL - 77

JO - Stem Cell Research

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ER -

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

Abstract

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