Quantitative Evaluation of Exon Skipping in Urine-Derived Cells for Duchenne Muscular Dystrophy.

Abstract

Antisense oligonucleotide (ASO)-based exon skipping therapy is thought to be promising for Duchenne muscular dystrophy (DMD). For the screening or assessing patient eligibility before administering ASO to patients, in vitro testing using myoblasts derived from each DMD patient is considered crucial. We previously reported state-of-the-art technology to obtain patient primary myoblasts from MYOD1-induced urine-derived cells (UDCs) as a model of DMD. We hypothesize that the myoblasts may potentially reflect specific pathological phenotypes, leading to a path for precision medicine in DMD patients. Here, we describe a detailed protocol for both acquiring MYOD1-induced myoblasts from UDCs and evaluating the correction of DMD mRNA and protein levels after exon-skipping in the cells.