Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene

Autor: Berta de la Cerda, Alberto Cañibano-Hernández, Lourdes Valdés-Sánchez, Francisco J. Diaz-Corrales, Beatriz Ponte-Zuñiga, Ana B. García-Delgado
Přispěvatelé: [Cañibano-Hernández,A, Valdes-Sanchez,L, Garcia-Delgado,AB, Diaz-Corrales,FJ, de la Cerda,B] Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Seville, Spain. [Ponte-Zúñiga,B] University Hospital Virgen Macarena, RETICS Oftared, Carlos III Institute of Health (Spain), Ministry of Health RD16/0008/0010, Seville, Spain., This work was supported by Andalusian Ministry of Health, Equality and Social Policies (PI-0099-2018)., Universidad de Sevilla. Departamento de Farmacia y Tecnología Farmacéutica, Universidad de Sevilla. Departamento de Cirugía, Consejería de salud, igualdad y Políticas Sociales. Junta de Andalucía PI-0099-2018, Ministerio de Sanidad, Servicios Sociales e Igualdad (España)
Jazyk: angličtina
Rok vydání: 2021
Předmět:
0301 basic medicine
Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings]
CRB1 gene
Analytical
Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree [Medical Subject Headings]
Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]
chemistry.chemical_compound
Macular Degeneration
0302 clinical medicine
Anatomy::Cells::Cells
Cultured::Cell Line [Medical Subject Headings]
Chemicals and Drugs::Amino Acids
Peptides
and Proteins::Proteins::Nerve Tissue Proteins [Medical Subject Headings]
Genotype
Biology (General)
CRB1
Línea celular
General Medicine
Macular dystrophy
Pedigree
Phenotype
Distrofias retinianas
Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]
Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration [Medical Subject Headings]
Retinal Dystrophies
Mutations
Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Retinal Dystrophies [Medical Subject Headings]
Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]
QH301-705.5
Induced Pluripotent Stem Cells
Nerve Tissue Proteins
Biology
Chemicals and Drugs::Amino Acids
Peptides
and Proteins::Proteins::Membrane Proteins [Medical Subject Headings]
Degeneración macular
Frameshift mutation
03 medical and health sciences
Humans
Eye Proteins
Gene
Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]
Anatomy::Cells::Stem Cells::Pluripotent Stem Cells::Induced Pluripotent Stem Cells [Medical Subject Headings]
Mutación
Dystrophy
Membrane Proteins
Retinal
Chemicals and Drugs::Amino Acids
Peptides
and Proteins::Proteins::Eye Proteins [Medical Subject Headings]
Cell Biology
Retinal dystrophies
030104 developmental biology
chemistry
Mutation
Cancer research
Cell line
Genotipo
030217 neurology & neurosurgery
Developmental Biology
Zdroj: Stem Cell Research, Vol 53, Iss, Pp 102301-(2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Popis: Retinal 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.
This work was supported by Andalusian Ministry of Health, Equality and Social Policies (PI-0099-2018).
Databáze: OpenAIRE
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