Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene
Summary
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.
| Authors | Cañibano-Hernández A, Valdes-Sanchez L, Garcia-Delgado AB, Ponte-Zúñiga B, Diaz-Corrales FJ, de la Cerda B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102301 |
| PubMed | 33773389 |
| DOI | 10.1016/j.scr.2021.102301 |