Examinando Farmacia y Tecnología Farmacéutica por Agencia financiadora "Consejería de salud, igualdad y Políticas Sociales. Junta de Andalucía PI-0099-2018"
(Elsevier, 2021-05) Cañibano-Hernández, Alberto; Valdes Sanchez, Lourdes; García Delgado, Ana Belén; Ponte-Zuñiga, Beatriz; Díaz-Corrales, Francisco J.; Cerda Haynes, Berta de la; 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
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.
