Article
Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene
Author/s | Cañibano-Hernández, Alberto
Valdes Sanchez, Lourdes García Delgado, Ana Belén ![]() ![]() ![]() ![]() ![]() ![]() ![]() Ponte-Zuñiga, Beatriz Díaz-Corrales, Francisco J. Cerda Haynes, Berta de la |
Department | Universidad de Sevilla. Departamento de Farmacia y Tecnología Farmacéutica Universidad de Sevilla. Departamento de Cirugía |
Publication Date | 2021-05 |
Deposit Date | 2022-11-16 |
Published in |
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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 ... 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. |
Funding agencies | Consejería de salud, igualdad y Políticas Sociales. Junta de Andalucía PI-0099-2018 |
Project ID. | PI-0099-2018
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Citation | Cañibano-Hernández, A., Valdes Sanchez, L., García Delgado, A.B., Ponte-Zuñiga, B., Díaz-Corrales, F.J. y Cerda Haynes, B.d.l. (2021). Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem Cell Research, 53, 102301. https://doi.org/10.1016/j.scr.2021.102301. |
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