Establishment of a human MYH6 compound heterozygous knockout hESC line to model cardiomyopathy and congenital heart defects by CRISPR/Cas9 system.

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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Citation

Engang Hao, Guizhong Zhang, Lihua Mu, Nana Ma, Tao Wang. Establishment of a human MYH6 compound heterozygous knockout hESC line to model cardiomyopathy and congenital heart defects by CRISPR/Cas9 system. Stem cell research. 2020 Dec 16;50:102128

PMID: 33360099

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