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

AuthorsCalado, Sofia M.; García-Delgado, Ana B.; Cerda, Berta de la ; Ponte-Zuñiga, Beatriz; Bhattacharya, Shom Shanker ; Díaz-Corrales, Francisco J.
Issue DateDec-2018
CitationStem Cell Research 33: 251-254 (2018)
AbstractRetinitis 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.
Publisher version (URL)https://doi.org/10.1016/j.scr.2018.11.002
Appears in Collections:(CABIMER) Artículos
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