ArticleScientific reports2015
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 58 citations in OpenAlex.
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Restored phagocytic ability of RPE patches derived from gene-corrected retinitis pigmentosa-hiPSCs on a biodegradable scaffold via clinical-grade protocol: Implications for autologous therapy.Genes & diseases · 2025Article
- Delivery of Human iPSC-Derived RPE Cells in Healthy Minipig Retina Results in Interaction Between Photoreceptors and Transplanted Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
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- Modeling inherited retinal diseases using human induced pluripotent stem cell derived photoreceptor cells and retinal pigment epithelial cells.Frontiers in medicine · 2024Review
- Sorsby fundus dystrophy (SFD): A narrative review.Medicine · 2022Review
- Developing Bottom-Up Induced Pluripotent Stem Cell Derived Solid Tumor Models Using Precision Genome Editing Technologies.The CRISPR journal · 2022Review
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Patient iPSC-derived retinal organoids: Observable retinal diseases in-a-dish.Histology and histopathology · 2021Review
- Differential Expression of Inflammasome-Related Genes in Induced Pluripotent Stem-Cell-Derived Retinal Pigment Epithelial Cells with or without History of Age-Related Macular Degeneration.International journal of molecular sciences · 2021Article
- Trends of Stem Cell Therapies in Age-Related Macular Degeneration.Journal of clinical medicine · 2021Review
- Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.International journal of molecular sciences · 2021Article
- Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Human mutation · 2021Article
- Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.Frontiers in neuroscience · 2021Article
- Role of In Vitro Models for Development of Ophthalmic Delivery Systems.Critical reviews in therapeutic drug carrier systems · 2021Review
- Environmental stress impairs photoreceptor outer segment (POS) phagocytosis and degradation and induces autofluorescent material accumulation in hiPSC-RPE cells.Cell death discovery · 2019Article
- Modeling rare diseases with induced pluripotent stem cell technology.Molecular and cellular probes · 2018Review
- Article
- Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.