Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation

Publication date: Available online 16 November 2018Source: Stem Cell ResearchAuthor(s): Sofia M. Calado, Ana B. Garcia-Delgado, Berta de la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-CorralesAbstractRetinitis 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research