Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling.

Affiliation

National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain; Retinal Degeneration Lab, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, 46012, Valencia, Spain. Electronic address: [Email]

Abstract

Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated human induced pluripotent stem cell (hiPSC) lines RP3-FiPS4F1 and Ctrl3-FiPS4F1, were free of genomically integrated reprogramming genes, showed stable karyotypes, expressed pluripotency markers and could be differentiated towards the three germ layers in vitro. These hiPSC lines offer a useful resource to study RP pathomechanisms, drug testing and therapeutic opportunities.