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

 

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Opened Access Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
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Author: Calado, Sofía M.
García-Delgado, Ana B.
Cerda, Berta De la
Ponte-Zuñiga, Beatriz
Bhattacharya, Shomi S.
Díaz Corrales, Francisco Javier
Department: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)
Date: 2018-11-16
Published in: Stem Cell Research, 33, 251-254.
Document type: Article
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 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.
Cite: 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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URI: https://hdl.handle.net/11441/81617

DOI: 10.1016/j.scr.2018.11.002

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