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

Cañibano-Hernández, Alberto; Valdes-Sanchez, Lourdes; Garcia-Delgado, Ana B.; Ponte-Zúñiga, Beatriz; Diaz-Corrales, Francisco J.; de la Cerda, Berta

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

dc.contributor.author	Cañibano-Hernández, Alberto
dc.contributor.author	Valdes-Sanchez, Lourdes
dc.contributor.author	Garcia-Delgado, Ana B.
dc.contributor.author	Ponte-Zúñiga, Beatriz
dc.contributor.author	Diaz-Corrales, Francisco J.
dc.contributor.author	de la Cerda, Berta
dc.contributor.authoraffiliation	[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.
dc.contributor.funder	This work was supported by Andalusian Ministry of Health, Equality and Social Policies (PI-0099-2018).
dc.date.accessioned	2022-09-27T07:09:32Z
dc.date.available	2022-09-27T07:09:32Z
dc.date.issued	2021-03-18
dc.description.abstract	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.	es_ES
dc.description.version	Yes	es_ES
dc.identifier.citation	Cañibano-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.	es_ES
dc.identifier.doi	10.1016/j.scr.2021.102301	es_ES
dc.identifier.essn	1876-7753
dc.identifier.issn	1873-5061
dc.identifier.pmid	33773389	es_ES
dc.identifier.uri	http://hdl.handle.net/10668/4158
dc.journal.title	Stem Cell Research
dc.language.iso	en
dc.page.number	4 p.
dc.publisher	Elsevier B.V.	es_ES
dc.relation.publisherversion	https://www.sciencedirect.com/science/article/pii/S1873506121001471	es_ES
dc.rights	Attribution-NonCommercial-NoDerivatives 4.0 Internacional	*
dc.rights.accessRights	Acceso abierto	es_ES
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/	*
dc.subject	Retinal dystrophies	es_ES
dc.subject	Mutations	es_ES
dc.subject	Macular dystrophy	es_ES
dc.subject	Cell line	es_ES
dc.subject	CRB1 gene	es_ES
dc.subject	Genotype	es_ES
dc.subject	Distrofias retinianas	es_ES
dc.subject	Mutación	es_ES
dc.subject	Degeneración macular	es_ES
dc.subject	Línea celular	es_ES
dc.subject	Genotipo	es_ES
dc.subject.mesh	Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans	es_ES
dc.subject.mesh	Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins	es_ES
dc.subject.mesh	Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation	es_ES
dc.subject.mesh	Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Nerve Tissue Proteins	es_ES
dc.subject.mesh	Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree	es_ES
dc.subject.mesh	Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype	es_ES
dc.subject.mesh	Medical Subject Headings::Anatomy::Cells::Stem Cells::Pluripotent Stem Cells::Induced Pluripotent Stem Cells	es_ES
dc.subject.mesh	Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration	es_ES
dc.subject.mesh	Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Retinal Dystrophies	es_ES
dc.subject.mesh	Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles	es_ES
dc.subject.mesh	Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype	es_ES
dc.subject.mesh	Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line	es_ES
dc.subject.mesh	Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye Proteins	es_ES
dc.title	Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene	es_ES
dc.type	research article
dc.type.hasVersion	VoR
dspace.entity.type	Publication