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Título: | Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene |
Autor: | Cañibano-Hernández, Alberto CSIC ORCID CVN; Valdés-Sánchez, María Lourdes; García-Delgado, Ana B. CSIC; Ponte-Zuñiga, Beatriz; Díaz-Corrales, Francisco J. CSIC ORCID; Cerda, Berta de la CSIC ORCID | Fecha de publicación: | may-2021 | Editor: | Elsevier BV | Citación: | Stem Cell Research 53: 102301 (2021) | Resumen: | 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. | Versión del editor: | http://dx.doi.org/10.1016/j.scr.2021.102301 | URI: | http://hdl.handle.net/10261/259171 | DOI: | 10.1016/j.scr.2021.102301 | Identificadores: | doi: 10.1016/j.scr.2021.102301 issn: 1873-5061 |
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