Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy

• Published in: Stem cell research Vol. 38; p. 101478
• Main Authors: Erkilic, Nejla, Sanjurjo-Soriano, Carla, Diakatou, Michalitsa, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.07.2019; Elsevier
• Subjects: Amino Acid Substitution; Cell Line; Cellular Reprogramming Techniques; Cone-Rod Dystrophies - genetics; Cone-Rod Dystrophies - metabolism; Cone-Rod Dystrophies - pathology; Fibroblasts - metabolism; Fibroblasts - pathology; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Induced Pluripotent Stem Cells - metabolism; Induced Pluripotent Stem Cells - pathology; Male; Middle Aged; Mutation, Missense; Trans-Activators - genetics; Trans-Activators - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2019.101478

We generated an induced pluripotent stem cell (iPSC) line using dermal fibroblasts from a 53 year-old patient with autosomal dominant cone-rod dystrophy (CRD) caused by a missense mutation, c.121C > T, in the CRX gene. Patient fibroblasts were reprogrammed using the non-integrative Sendai virus reprogramming system and the human OSKM transcription factor cocktail. The generated iPSCs contained the congenital mutation in exon 3 of CRX and were pluripotent and genetically stable. This iPSC line will be an important tool for retinal differentiation studies to better understand the CRD phenotype caused by the mutant p.Arg41Trp CRX protein.