Generation of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient

Abstract

Leber’s congenital amaurosis (LCA) is a complex inherited retinal dystrophy characterized by severe vision loss and even blindness early in life, caused by more than 38 genes. Variations in RDH12 were found to be responsible for LCA. We successfully generated two induced pluripotent stem cell lines from a patient diagnosed with LCA carrying the RDH12 compound heterozygous mutations c.524C>T (p.Ser175Leu) and c.806C>G (p.Ala269Gly). Both iPSC lines displayed differentiation potential in vitro, exhibited normal karyotype and expressed pluripotency markers. These iPSC lines will act as a tool for studying the pathogenesis and treatment of RDH12-related LCA.