Andrew Gray

Generation of a Patient-Derived Inducible Pluripotent Stem Cell Model for Studying the YARS2-Related Genetic Disease

The YARS2 variant, harboring the compound heterozygous pathogenic mutations F185L/E264del, was identified in the gene for mitochondrial tyrosyl-tRNA synthetase in a proband that suffered a neonatal phenotype. To facilitate studies to better understand the severity of the mutations, we created a patient-derived inducibl...