Generation of an induced pluripotent stem cell line from a Brugada syndrome patient carrying SCN5A/c.3118G>C mutation.
Stem Cell Res
; 80: 103529, 2024 Oct.
Article
en En
| MEDLINE
| ID: mdl-39121653
ABSTRACT
Brugada syndrome (BrS) is a hereditary arrhythmia syndrome characterized by right bundle branch block on an electrocardiogram and persistent ST-segment elevation in the right precordial leads. In this study, we describe the establishment of an induced pluripotent stem cell (iPSC) line derived from a BrS patient carrying the novel heterogeneous missense mutation (c.3118G>C; p.G1040R) in the sodium channel protein type 5 subunit alpha (SCN5A) gene. Skin fibroblasts underwent reprogramming using a non-integrated Sendai viral method. Generated iPSC line exhibited embryonic stem cell-like morphology, maintained a normal karyotype, expressed pluripotency markers, and demonstrated the capacity to differentiate into three germ layers.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Brugada
/
Células Madre Pluripotentes Inducidas
/
Canal de Sodio Activado por Voltaje NAV1.5
Límite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido