Editing a mild albinism gene variant in patient stem cells

This paper creates a genome-edited iPSC model to study how a low-penetrance TYR variant contributes to pigmentation biology and albinism risk.

This is an in vitro stem-cell resource study using patient-derived iPSCs with homozygous TYR c.1205G>A and a CRISPR-Cas9-corrected matched line.

The work establishes differentiation-capable cell lines but does not report melanocyte or retinal pigment epithelium disease phenotypes or therapeutic outcomes.