RNA-seq analysis revealed aberrant gene expression in motor neurons derived from ALS patient iPSCs bearing SOD1+/A272C mutation. Homo sapiens

The goal of this study is to gain insight into the early biomarkers and molecular pathways affected by the SOD1+/A272C mutation in human motor neurons. Isogenic control line was created by CRISPR/Cas9 mediated targeted gene correction. Motor neurons were derived from isogenic iPSC lines, and RNA sequencing was employed to determine differentially expressed genes. This study provides an isogenic platform to study ALS disease mechanism at the early stage. Overall design: wild type and mutant, 2 replicates.