Stem Cell Research (Dec 2018)

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

  • Sofia M. Calado,
  • Ana B. Garcia-Delgado,
  • Berta De la Cerda,
  • Beatriz Ponte-Zuñiga,
  • Shom S. Bhattacharya,
  • Francisco J. Díaz-Corrales

Journal volume & issue
Vol. 33
pp. 251 – 254

Abstract

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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.