Developmental BiologybioRxivPreprint
Efficient GNE myopathy disease modeling with mutation specific phenotypes in human pluripotent stem cells by base editors
Ju-Chan Park, Jumee Kim, Hyun-Ki Jang…·Hyuk‐Jin Cha
The paper establishes isogenic GNE myopathy disease models using base editors in hPSCs, showing mutation-specific hyposialylation and drug responses.
DOI 10.1101/2020.11.25.397711