Establishment of a human MYH6 compound heterozygous knockout hESC line to model cardiomyopathy and congenital heart defects by CRISPR/Cas9 system.
Stem Cell Res
; 50: 102128, 2020 Dec 16.
Article
em En
| MEDLINE
| ID: mdl-33360099
ABSTRACT
MYH6 encodes the alpha heavy chain subunit of cardiac myosin. Mutations in MYH6 cause cardiomyopathy and congenital heart defects. However, due to embryonic lethality in MYH6 knockout mice, the precise roles of MYH6 in cardiomyopathy, congenital heart defects and development process remain largely unknown. In this study, we generated a human MYH6 compound heterozygous knockout hESC line using CRISPR/Cas9 technology. The establishment cell line WAe009-A-46 carried a compound heterozygous 2 bp deletion/7 bp deletion in MYH6, expressed pluripotency markers, showed a normal karyotype and exhibited capability to differentiate into the three germ layers in vitro. MYH6 protein was not detectable in WAe009-A-46 line. This cell line provides a useful tool for studying the role of MYH6 in cardiomyopathy and congenital heart defects.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China