Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations

RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD). Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of a patient with RDH12 mutations. Blood sample was obtained, and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC line. The hiPSCs were characterized according to standard protocols including karyotyping, pluripotency marker expression and differentiation towards the three germ layers.