%0 Journal Article
%A Calado, Sofia M
%A Garcia-Delgado, Ana B
%A De la Cerda, Berta
%A Ponte-Zuñiga, Beatriz
%A Bhattacharya, Shom S
%A Díaz-Corrales, Francisco J
%T Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.
%D 2018
%U http://hdl.handle.net/10668/13226
%X 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.
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