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Article

In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium.

Stem cell reports - 11 Jan 2022

George Aman, Sharma Ruchi, Pfister Tyler, Abu-Asab Mones, Hotaling Nathan, Bose Devika, DeYoung Charles, Chang Justin, Adams David R, Cogliati Tiziana, Bharti Kapil, Brooks Brian P

Abstract excerpt

Oculocutaneous albinism (OCA) encompasses a set of autosomal recessive genetic conditions that affect pigmentation in the eye, skin, and hair. OCA patients display reduced best-corrected visual acuity, reduced to absent ocular pigmentation, abnormalities in fovea development, and/or abnormal decussation of optic nerve fibers. It has been hypothesized that improving eye pigmentation could prevent or rescue some of...

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Identifiers

PMID: 35021041
DOI: 10.1016/j.stemcr.2021.11.016
PMCID: PMC8758966

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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