dc.contributor
Institut Català de la Salut
dc.contributor
[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
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Isla-Magrané, Helena
dc.contributor.author
Zapata, Miguel Angel
dc.contributor.author
Garcia-Arumi, Elena
dc.contributor.author
Zufiaurre Seijo, Maddalen
dc.contributor.author
Duarri, Anna
dc.date.accessioned
2025-05-03T13:40:16Z
dc.date.available
2025-05-03T13:40:16Z
dc.date.issued
2025-03-11T09:52:53Z
dc.date.issued
2025-03-11T09:52:53Z
dc.identifier
Isla-Magrané H, Zufiaurre-Seijo M, Zapata MÁ, García-Arumí J, Duarri A. Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters. Stem Cell Res. 2025 Feb;82:103645.
dc.identifier
http://hdl.handle.net/11351/12740
dc.identifier
10.1016/j.scr.2024.103645
dc.identifier
001420652000001
dc.identifier.uri
http://hdl.handle.net/11351/12740
dc.description.abstract
Pluripotent stem cell; Retinitis pigmentosa; Asymptomatic carriers
dc.description.abstract
Células madre pluripotentes; Retinitis pigmentosa; Portadoras asintomáticas
dc.description.abstract
Cèl·lules mare pluripotents; Retinitis pigmentosa; Portadores asimptomàtiques
dc.description.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.
dc.format
application/pdf
dc.relation
Stem Cell Research;82
dc.relation
https://doi.org/10.1016/j.scr.2024.103645
dc.rights
Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Cultiu cel·lular
dc.subject
Retinitis pigmentària - Aspectes genètics
dc.subject
Cèl·lules mare adultes
dc.subject
DISEASES::Eye Diseases::Eye Diseases, Hereditary::Retinitis Pigmentosa
dc.subject
Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
ANATOMY::Cells::Cells, Cultured::Cell Line
dc.subject
ANATOMY::Cells::Stem Cells::Adult Stem Cells::Induced Pluripotent Stem Cells
dc.subject
ENFERMEDADES::oftalmopatías::enfermedades hereditarias de los ojos::retinitis pigmentosa
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.subject
ANATOMÍA::células::células cultivadas::línea celular
dc.subject
ANATOMÍA::células::células madre::células madre adultas::células madre pluripotentes inducidas
dc.title
Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
