Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102689
Abstract: Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.… read more here.
Keywords: variant rpe65; patient; line; homozygous variant ... See more keywords