Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa

• Published in: Stem cell research Vol. 33; pp. 228 - 232
• Main Authors: Sanjurjo-Soriano, Carla, Erkilic, Nejla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.12.2018; Elsevier
• Subjects: Human health and pathology; Life Sciences
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2018.11.004

We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming method and the human OSKM transcription factor cocktail. The generated cells were pluripotent and genetically stable. This iPSC line will be an important tool for studying the pathogenesis of these USH2A mutations and for developing treatments that, due their high prevalence, will target a large patient population.