Purpose of the STSM: Unstable expansions of short tandem repeats cause almost 50 incurable neurological diseases, including myotonic dystrophy type 1 (DM1). DM1 expansion instability is driven by the number of repeats and other factors as well. Most of the DM1 research related to the expansion instability and other clinically relevant parameters is focused on patient samples and currently there is no widely used cell line model system.

At the applicant’s lab (University of Belgrade), the team is developing a HEK293T-based cell line model system for myotonic dystrophy type 1. Although this cell line will probably be suitable to study the repeat instability during DNA replication and repair, it is not ideal to study the pathophysiology of the disease at the molecular level. A more suitable cell line for myotonic dystrophy pathophysiology will be a cell line more related to muscle tissue such as myoblasts.

Yet, back in Belgrade, they do not have expertise for standard cell culture work with myoblasts. In order to create a myoblast cell line, they would need to optimize how to grow, passage and freeze them, but also to perform transfections and how to estimate transfection efficiency. Therefore, thee aim of this STSM was for Marko to obtain training in working with myoblast cell cultures.

Grantee name: Marko Panić 

STSM start and end date: 26/09/2022 to 07/10/2022

Title: Immortalized myoblasts as a model system for myotonic dystrophy type 1 – training in myoblast cell culture

Host lab: Prof. Virginia Arechavala-Gomeza, Biocruces Bizkaia Health Research Institute (Bilbao, ES)