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

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 genera...

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Bibliographic Details
Published in:Stem cell research 2018-12, Vol.33, p.251-254
Main Authors: Calado, Sofia M., Garcia-Delgado, Ana B., De la Cerda, Berta, Ponte-Zuñiga, Beatriz, Bhattacharya, Shom S., Díaz-Corrales, Francisco J.
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2018.11.002