New insights in Gaucher cells models: Characterization of a monocyte edited cells using CRISPR/Cas9 technology

ORMAZABAL, MAXIMILIANO; PAVAN, ELEONORA; VAENA, EMILIO; DARDIS, ANDREA; ROZENFELD, PAULA

Orlando

Simposio; 16th Annual WORLDSymposium; 2020

Lysosomal Disease Network (LDN)

Gaucher disease (GD) is caused by a deficiency in the enzyme acid-β-glucocerebrosidase (GCase) that conduce to the accumulation of the substrate glucosylceramide (GlcCer), particularly in macrophages.To better understand the pathophysiological molecular mechanism and developing novel therapeutic approaches, it is completely necessary to have a cellular model that represents the characteristics of the disease. The available cell lines that model GD do not demonstrate the storage of lysosomal glycolipids, or a complete pathological phenotype.In this sense, we developed a new cellular model of GD, exploiting the new technology for genome editing CRISPR/Cas9.Specifically, monocytes (THP-1) cells have been used for disease modelling by knocking out the GBA1 gene.