TY  - JOUR
AU  - Cañibano-Hernández, Alberto
AU  - Valdes-Sanchez, Lourdes
AU  - Garcia-Delgado, Ana B.
AU  - Ponte-Zúñiga, Beatriz
AU  - Diaz-Corrales, Francisco J.
AU  - de la Cerda, Berta
PY  - 2021
DO  - 10.1016/j.scr.2021.102301
SN  - 1873-5061
UR  - http://hdl.handle.net/10668/4158
T2  - Stem Cell Research
AB  - 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...
LA  - en
PB  - Elsevier B.V.
KW  - Retinal dystrophies
KW  - Mutations
KW  - Macular dystrophy
KW  - Cell line
KW  - CRB1 gene
KW  - Genotype
KW  - Distrofias retinianas
KW  - Mutación
KW  - Degeneración macular
KW  - Línea celular
KW  - Genotipo
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nerve Tissue Proteins
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Anatomy::Cells::Stem Cells::Pluripotent Stem Cells::Induced Pluripotent Stem Cells
KW  - Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration
KW  - Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Retinal Dystrophies
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
KW  - Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye Proteins
TI  - Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene
TY  - research article
ER  -