C101 IPF: CLINICAL STUDIES, THERAPEUTICS, AND MORE II: Generation Of Mouse Lung Epithelial Cell Models Of Hermansky-Pudlak Syndrome (hps) Via Crispr-Cas9 Mediated Mutation In Mle15

MLE15/HPS1 cells demonstrated defective targeting of RAB38 to LB-like organelles reflecting BLOC3 dysfunction. [...]MLE15/HPS2 cells secreted significantly increased amounts of MCP-1 compared to WT and MLE15/HPS3 cells, recapitulating a key cellular phenotype of primary AT2 from HPS mice. Furthermore, specific signaling pathways involved in the pathogenesis of the disease can be precisely dissected to gain insight into the molecular mechanisms of the disease and to identify new drug targets.