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, Seung-Yeon Lee, Keun-Tae Kim, Seokwoo Park, Hyun Sik Lee, Hee‐Jung Choi, Soon‐Jung Park, Sung‐Hwan Moon, Sangsu Bae, Hyuk‐Jin Cha
The paper establishes isogenic GNE myopathy disease models using base editors in hPSCs, showing mutation-specific hyposialylation and drug responses.
bioRxiv · Nov 25, 2020 · PreprintDevelopmental Biology