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

Abstract Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from patient with family history CRB1-retinal dystrophy was used prepare iPSC line ESi082-A. The genotype donor, affected perifoveal-bilateral macular includes one frameshift deletion and hypomorphic allele. ESi082-A cell has been characterized for pluripotency will be cellular models retinal cells study dysfunction leading disease.