Generation of a MYH6 (c.4034T > C) mutant human embryonic stem cell line via CRISPR base editing

Summary

The MYH6 gene encodes α-myosin heavy chain in the adult human heart. MYH6 c.4034T > C (p.Leu1345Pro) mutation in MYH6 gene have been reported in patients with hypertrophic cardiomyopathy (HCM), but its causal role in HCM is less certain and has not been established unambiguously. Here, we generated a MYH6 (c.4034T > C) mutant human embryonic stem cell line (WAe009-A-1D) based on the CRISPR adenine base editing system that converts base A/T to G/C. The WAe009-A-1D cell maintains the morphology, pluripotency, and normal karyotype of the stem cells and is capable of differentiating into all three germ layers in vivo. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Jiang X, Liu Q, Yang L, Zhang X, Gao J, Jiang Y
Journal Stem cell research
Publication Date 2024 Dec;81:103610
PubMed 39541768
DOI 10.1016/j.scr.2024.103610

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