Cañibano-Hernández, AlbertoValdes-Sanchez, LourdesGarcia-Delgado, Ana B.Ponte-Zúñiga, BeatrizDiaz-Corrales, Francisco J.de la Cerda, Berta2022-09-272022-09-272021-03-18Cañibano-Hernández A, Valdes-Sanchez L, Garcia-Delgado AB, Ponte-Zúñiga B, Diaz-Corrales FJ, de la Cerda B. Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem Cell Res. 2021 May;53:102301.1873-5061http://hdl.handle.net/10668/4158Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A. The genotype of the donor, affected of a perifoveal-bilateral macular dystrophy includes one frameshift deletion and one hypomorphic allele. ESi082-A cell line has been characterized for pluripotency and will be used to prepare retinal cellular models to study the dysfunction leading to the disease.enAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Retinal dystrophiesMutationsMacular dystrophyCell lineCRB1 geneGenotypeDistrofias retinianasMutaciónDegeneración macularLínea celularGenotipoMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane ProteinsMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nerve Tissue ProteinsMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::PedigreeMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::PhenotypeMedical Subject Headings::Anatomy::Cells::Stem Cells::Pluripotent Stem Cells::Induced Pluripotent Stem CellsMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular DegenerationMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Retinal DystrophiesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::AllelesMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::GenotypeMedical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell LineMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye ProteinsGeneration of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 generesearch article33773389Acceso abierto10.1016/j.scr.2021.1023011876-7753