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

Stem cell research - 1 May 2021

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

Abstract excerpt

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...

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Eye Proteins
Induced Pluripotent Stem Cells
Macular Degeneration
Membrane Proteins
Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Dystrophies

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PMID: 33773389
DOI: 10.1016/j.scr.2021.102301

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