Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

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Title: Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
Authors: Lukovic, Dunja | Artero Castro, Ana | Garcia Delgado, Ana Belen | Martín Bernal, María de los Angeles | Luna Pelaez, Noelia | Díez Lloret, Andrea | Perez Espejo, Rocío | Kamenarova, Kunka | Fernández Sánchez, Laura | Cuenca, Nicolás | Corton, Marta | Ávila-Fernández, Almudena | Sorkio, Anni | Skottman, Heli | Ayuso, Carmen | Erceg, Slaven | Bhattacharya, Shomi S.
Research Group/s: Neurobiología del Sistema Visual y Terapia de Enfermedades Neurodegenerativas (NEUROVIS)
Center, Department or Service: Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología
Keywords: Retinitis pigmentosa | Human induced pluripotent stem cells | iPSC | MERTK gene
Knowledge Area: Biología Celular
Issue Date: 11-Aug-2015
Publisher: Nature Publishing Group
Citation: Lukovic, D. et al. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. Sci. Rep. 5, 12910; doi: 10.1038/srep12910 (2015)
Abstract: Retinitis pigmentosa (RP) represents a genetically heterogeneous group of retinal dystrophies affecting mainly the rod photoreceptors and in some instances also the retinal pigment epithelium (RPE) cells of the retina. Clinical symptoms and disease progression leading to moderate to severe loss of vision are well established and despite significant progress in the identification of causative genes, the disease pathology remains unclear. Lack of this understanding has so far hindered development of effective therapies. Here we report successful generation of human induced pluripotent stem cells (iPSC) from skin fibroblasts of a patient harboring a novel Ser331Cysfs*5 mutation in the MERTK gene. The patient was diagnosed with an early onset and severe form of autosomal recessive RP (arRP). Upon differentiation of these iPSC towards RPE, patient-specific RPE cells exhibited defective phagocytosis, a characteristic phenotype of MERTK deficiency observed in human patients and animal models. Thus we have created a faithful cellular model of arRP incorporating the human genetic background which will allow us to investigate in detail the disease mechanism, explore screening of a variety of therapeutic compounds/reagents and design either combined cell and gene- based therapies or independent approaches.
Sponsor: This work was supported by Andalusian Health Council (PI-0324-2013), Instituto de Salud Carlos III (PI13/01331), Spanish Ministry of Economy and Competitiveness-FEDER BFU2012-36845, Instituto de Salud Carlos III RETICS RD12/0034/0010 and Academy of Finland (218050; 272808).
ISSN: 2045-2322
DOI: 10.1038/srep12910
Language: eng
Type: info:eu-repo/semantics/article
Rights: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
Peer Review: si
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Appears in Collections:INV - NEUROVIS - Artículos de Revistas

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