Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Abstract

The RPE65 gene encodes a key enzyme in the visual cycle, a process essential for vision. While biallelic variants are known to cause severe, autosomal recessive, early-onset inherited retinal disease (IRD), we recently implicated a monoallelic founder variant in RPE65 c.1555G>A p.(E519K) in an autosomal dominant adult-onset maculopathy, a distinct IRD phenotype. Blood samples from three patients who are heterozygous for this novel missense variant were used to generate induced pluripotent stem cells (iPSCs). These iPSCs have been thoroughly characterized and will be differentiated into various retinal cell types to investigate the underlying disease mechanisms and assess potential therapeutic strategies.