Article

Genome editing of a low-penetrance albinism-associated variant in TYR in patient-derived pluripotent stem cells

2025-07-16

Abstract excerpt

TYR encodes tyrosinase, the enzyme catalysing the initial steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). TYR c.1205G>A (p.Arg402Gln) is a common genetic variant associated with several pigmentation traits. Notably, when this variant is encountered in specific haplotypic backgrounds in the homozygous state, it predisposes to albinism. We generated an induced pluripotent stem cell...

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Literature Corpus work: be3b2fea-94b5-54ac-9f10-ad8be95041ef
DOI: 10.1101/2025.07.14.664762

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