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Stem Cell Res. 2018 Dec;33:251-254. doi: 10.1016/j.scr.2018.11.002. Epub 2018 Nov 16.

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

Author information

1
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre-CABIMER (Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide), Seville, Spain.
2
Macarena University Hospital, Department of Ophthalmology, Seville, Spain.
3
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre-CABIMER (Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide), Seville, Spain. Electronic address: francisco.diaz@cabimer.es.

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.

PMID:
30471616
DOI:
10.1016/j.scr.2018.11.002
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