Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters

Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters. These three hiPSC lines maintain a normal karyotype, exhibit pluripotency gene expression, and can differentiate into the three germ layers.

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Publication Details

Journal
Stem Cell Research
Published
2024-12-28
DOI
https://doi.org/10.1016/j.scr.2024.103645
Citations
1
Primary Topic
Pluripotent Stem Cells Research
Type
article
Field-Weighted Citation Impact
0.23

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article

Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters

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article

Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters

Maddalen Zufiaurre-Seijo, Miguel Ángel Zapata, Anna Duarri, José Garcia-Arumı́, Helena Isla-Magrané
article en
1 citations

Abstract

Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in the EYS gene, it is believed to be critical for the structural and functional integrity of the retina. Using a non-integrative RNA reprogramming method, we have generated human induced pluripotent stem cell (hiPSC) lines from RP25 patient and from carriers but asymptomatic daughters. These three hiPSC lines maintain a normal karyotype, exhibit pluripotency gene expression, and can differentiate into the three germ layers.

Stem Cell ResearchVol. 82
Universitat Autònoma de Barcelona (ES), Vall d'Hebron Institut de Recerca (ES), Vall d'Hebron Hospital Universitari (ES)
Instituto de Salud Carlos III, Agencia Estatal de Investigación
Zero hunger
Openalex Percentile: Top 40%
Pluripotent Stem Cells Research
0.23
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