%0 Journal Article
%A Cañibano-Hernández, Alberto
%A Valdes-Sanchez, Lourdes
%A Garcia-Delgado, Ana B.
%A Ponte-Zúñiga, Beatriz
%A Diaz-Corrales, Francisco J.
%A de la Cerda, Berta
%T Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene
%D 2021
%@ 1873-5061
%U http://hdl.handle.net/10668/4158
%X 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.
%K Retinal dystrophies
%K Mutations
%K Macular dystrophy
%K Cell line
%K CRB1 gene
%K Genotype
%K Distrofias retinianas
%K Mutación
%K Degeneración macular
%K Línea celular
%K Genotipo
%~