Generation of Pathogenic TPP1 Mutations in Human Stem Cells as a Model for CLN2 Disease
L. Ma, A. Prada, M. Schmidt, E. M. Morrow
This paper generates human stem cell models of CLN2 disease by introducing pathogenic TPP1 mutations using CRISPR/Cas9 and validates their reduced TPP1 enzyme activity.
bioRxiv · Jan 5, 2021Cell Biology