Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
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DOI: 10.1016/j.scr.2019.101665
Abstract: Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While… read more here.
Keywords: derivation familial; retinitis pigmentosa; ipsc lines; rpe65 ... See more keywords