Sistema de Salut de Catalunya
Institut Català de la Salut
[Isla-Magrané H, Zufiaurre-Seijo M, Duarri A] Grup de Recerca d’Oftalmologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Zapata MÁ] Grup de Recerca d’Oftalmologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [García-Arumí J] Grup de Recerca d’Oftalmologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei d’Oftalmologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Department of Ophthalmology, Universitat Autònoma de Barcelona, Bellaterra, Spain
Vall d'Hebron Barcelona Hospital Campus
2025-03-11T09:52:53Z
2025-03-11T09:52:53Z
2024
2025-02
Pluripotent stem cell; Retinitis pigmentosa; Asymptomatic carriers
Células madre pluripotentes; Retinitis pigmentosa; Portadoras asintomáticas
Cèl·lules mare pluripotents; Retinitis pigmentosa; Portadores asimptomàtiques
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.
Article
Published version
English
Cultiu cel·lular; Retinitis pigmentària - Aspectes genètics; Cèl·lules mare adultes; DISEASES::Eye Diseases::Eye Diseases, Hereditary::Retinitis Pigmentosa; Other subheadings::Other subheadings::Other subheadings::/genetics; ANATOMY::Cells::Cells, Cultured::Cell Line; ANATOMY::Cells::Stem Cells::Adult Stem Cells::Induced Pluripotent Stem Cells; ENFERMEDADES::oftalmopatías::enfermedades hereditarias de los ojos::retinitis pigmentosa; Otros calificadores::Otros calificadores::Otros calificadores::/genética; ANATOMÍA::células::células cultivadas::línea celular; ANATOMÍA::células::células madre::células madre adultas::células madre pluripotentes inducidas
Elsevier
Stem Cell Research;82
https://doi.org/10.1016/j.scr.2024.103645
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
Articles científics - VHIR [1655]
