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    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. Copyright © 2021. Published by Elsevier B.V.


    Alberto Cañibano-Hernández, Lourdes Valdes-Sanchez, Ana B Garcia-Delgado, Beatriz Ponte-Zúñiga, Francisco J Diaz-Corrales, Berta de la Cerda. Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene. Stem cell research. 2021 May;53:102301

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    PMID: 33773389

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