Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Summary
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Pluripotency and differentiation capacity were assessed by immunocytochemistry and RT-PCR. This iPSC line can be further differentiated towards the affected cells to understand the pathophysiology of the disease and test new therapeutic strategies. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Calado SM, Garcia-Delgado AB, De la Cerda B, Ponte-Zuñiga B, Bhattacharya SS, Díaz-Corrales FJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:251-254 |
| PubMed | 30471616 |
| DOI | 10.1016/j.scr.2018.11.002 |