Article
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Author/s | Calado, Sofía M.
García Delgado, Ana Belén Cerda, Berta De la Ponte-Zuñiga, Beatriz Bhattacharya, Shomi S. Díaz Corrales, Francisco Javier |
Department | Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) |
Publication Date | 2018-11-16 |
Deposit Date | 2019-01-16 |
Published in |
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Abstract | 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 ... 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. |
Funding agencies | Cellex Foundation Junta de Andalucía |
Citation | Calado, S.M., García-Delgado, A.B., Cerda, B.D.l., Ponte-Zuñiga, B., Bhattacharya, S.S. y Díaz Corrales, F.J. (2018). Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation. Stem Cell Research, 33, 251-254. |
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