CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia

Abstract

The SLC25A38 is one of the genes of the heme biosynthesis pathway and disruptive alterations therein cause autosomal recessive congenital sideroblastic anemia (CSA). Primary patient‐derived fibroblasts can be used as a valuable source for disease modeling, cell therapy studies, and the generation of induced pluripotent stem cells. In addition, they are easy to isolate and grow rapidly in vitro. Therefore, effective gene correction in these cells could be an important step towards personalized therapies.