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

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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Main Authors: Sofia M. Calado, Ana B. Garcia-Delgado, Berta De la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Format: Article
Language:English
Published: Elsevier 2018-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506118302708
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spelling doaj-9340379e151f4186b0f2dfce0b98d2232020-11-25T02:18:28ZengElsevierStem Cell Research1873-50612018-12-0133251254Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutationSofia M. Calado0Ana B. Garcia-Delgado1Berta De la Cerda2Beatriz Ponte-Zuñiga3Shom S. Bhattacharya4Francisco J. Díaz-Corrales5Department 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, SpainDepartment 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, SpainDepartment 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, SpainMacarena University Hospital, Department of Ophthalmology, Seville, SpainDepartment 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, SpainDepartment 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; Corresponding author at: Andalusian Molecular Biology and Regenerative Medicine Centre, Avda. Americo Vespucio n°24 Edif. CABIMER, Parque Científico y Tecnológico Cartuja, 41092 Sevilla, Spain.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.http://www.sciencedirect.com/science/article/pii/S1873506118302708
collection DOAJ
language English
format Article
sources DOAJ
author Sofia M. Calado
Ana B. Garcia-Delgado
Berta De la Cerda
Beatriz Ponte-Zuñiga
Shom S. Bhattacharya
Francisco J. Díaz-Corrales
spellingShingle Sofia M. Calado
Ana B. Garcia-Delgado
Berta De la Cerda
Beatriz Ponte-Zuñiga
Shom S. Bhattacharya
Francisco J. Díaz-Corrales
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
Stem Cell Research
author_facet Sofia M. Calado
Ana B. Garcia-Delgado
Berta De la Cerda
Beatriz Ponte-Zuñiga
Shom S. Bhattacharya
Francisco J. Díaz-Corrales
author_sort Sofia M. Calado
title Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
title_short Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
title_full Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
title_fullStr Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
title_full_unstemmed Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
title_sort generation of a human ips cell line from a patient with retinitis pigmentosa due to eys mutation
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2018-12-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506118302708
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