Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.
Stem Cell Res
; 80: 103491, 2024 Oct.
Article
en En
| MEDLINE
| ID: mdl-39047410
ABSTRACT
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymphoblastoid cells of three unrelated individuals heterozygous for the most common MPD1-causing variant; p.Lys1617del. iPSC lines showed typical morphology, expressed pluripotency markers, demonstrated trilineage differentiation potential, and had a normal karyotype. These lines represent the first iPSCs derived from MPD1 patients and complement existing MPD1 animal models. They can provide in vitro platforms to better understand and model MPD1 pathomechanisms and test therapies.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cadenas Pesadas de Miosina
/
Miosinas Cardíacas
/
Miopatías Distales
/
Células Madre Pluripotentes Inducidas
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido