Research Project

Project Title:	Generation and characterization of a new muscle cystinotic cell line
Project Type:	Translational research
Disease group(s):	Metabolic & stone disorders
Project Summary:	In this project, the first aim is to generate a murine myoblasts cell line knock out for the Ctns gene by using CRISPR Cas9 gene editing technology. A characterization will then be carried out, involving two levels of investigation: first, the type of mutation generated will be evaluated by whole genome sequencing and then the accumulation of intra-lysosomal cystine, a peculiarity of the disease, will be assayed. Secondly, differentiation will be induced and the ability of these cells to regularly differentiate into myocytes will be evaluated, through the expression analysis of specific markers. Finally, the energy metabolism in this new cell model will be assessed,considering that alterations in the cells of the proximal renal tubule have been already shown.
Lead principal investigator(s):	Francesco Bellomo, Rome
Project Period:	01/2022 - 12/2022