Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes

[Background]: Inherited retinal dystrophies (IRD) are one of the main causes of incurable blindness worldwide. IRD are caused by mutations in genes that encode essential proteins for the retina, leading to photoreceptor degeneration and loss of visual function. IRD generates an enormous global finan...

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Detalles Bibliográficos
Autores: Puertas-Neyra, Kevin, Coco, Rosa M., Hernández-Rodríguez, Leticia A., Gobelli, Dino, García-Ferrer, Yenisey, Palma-Vecino, Raicel, Tellería, Juan José, Simarro-Grande, María, Fuente, Miguel A. de la, Fernández-Bueno, Iván
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/380130
Acceso en línea:http://hdl.handle.net/10261/380130
Access Level:acceso abierto
Palabra clave:iPSC
Retinal diseases
PROM1 gene
CD133
Retinitis pigmentosa
Cone-rod dystrophy
Stargardt’s type 4 disease
Descripción
Sumario:[Background]: Inherited retinal dystrophies (IRD) are one of the main causes of incurable blindness worldwide. IRD are caused by mutations in genes that encode essential proteins for the retina, leading to photoreceptor degeneration and loss of visual function. IRD generates an enormous global financial burden due to the lack of understanding of a significant part of its pathophysiology, molecular diagnosis, and the near absence of non-palliative treatment options. Patient-derived induced pluripotent stem cells (iPSC) for IRD seem to be an excellent option for addressing these questions, serving as exceptional tools for in-depth studies of IRD pathophysiology and testing new therapeutic approaches.

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