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

Publication date: Available online 28 November 2018Source: Stem Cell ResearchAuthor(s): Edouard Baulier, Alejandro Garcia Diaz, Barbara Corneo, Debora B. FarberAbstractOcular 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research