Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Stem Cell Res
; 77: 103411, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38582058
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ryanodine Receptor Calcium Release Channel
/
Mutation, Missense
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Induced Pluripotent Stem Cells
Limits:
Adult
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Female
/
Humans
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Male
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article