Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143

Edouard Baulier; Alejandro Garcia Diaz; Barbara Corneo; Debora B Farber

doi:10.1016/j.scr.2018.11.016

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143

Stem Cell Res. 2018 Dec:33:274-277. doi: 10.1016/j.scr.2018.11.016. Epub 2018 Nov 28.

Authors

Edouard Baulier¹, Alejandro Garcia Diaz², Barbara Corneo², Debora B Farber³

Affiliations

¹ Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095, USA. Electronic address: [email protected].
² Stem Cell Core Facility, Columbia University Medical Center, New York, NY 10032, USA.
³ Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095, USA; Molecular Biology Institute, UCLA, Los Angeles, CA 90095, USA; Brain Research Institute, UCLA, Los Angeles, CA 90095, USA.

PMID: 30513407
DOI: 10.1016/j.scr.2018.11.016

Abstract

Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. This new iPSC line will allow a better understanding of the Ocular Albinism type 1 disease and to screen for potential therapeutic candidates.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Albinism, Ocular / genetics*
Eye Proteins / genetics*
Humans
Induced Pluripotent Stem Cells / metabolism*
Male
Membrane Glycoproteins / genetics*
Mutation

Substances

Eye Proteins
GPR143 protein, human
Membrane Glycoproteins

Supplementary concepts

Ocular Albinism type 1