Work

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

Year: 2025

Type: article

Abstract: 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 (iPSC) line from an affected individual carrying such a homozygous genotype (UMANi255-A), and then used CRISPR-Cas9 to correct the TYR c.1205G>A variant (UMANi255-A-1). The resulting iPSC lines demonstrate capacity for multi-lineage differentiation, providing a useful in vitro model for studying pigmentation biology.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103855

Authors: Polly Downton, Nicola Bates, Steven Woods, Antony Adamson, Panagiotis I. Sergouniotis

Institutions: University of Manchester, Manchester Academic Health Science Centre, Manchester Royal Eye Hospital, St Mary's Hospital, Manchester University NHS Foundation Trust

Language: English

Topic: melanin and skin pigmentation

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360