Portal de investigación
Generation of isogenic gene-corrected cell lines from a USH2A-RP patient-derived iPS cell line.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Del Buey Furió V
- Gallardo ME
- Gamundi MJ
- Ellederova Z
- Lukovic D
Grupos
Abstract
Comparative studies using induced pluripotent stem cells (iPSCs) from patients with those from healthy individuals as controls are flawed by genetic background contribution to disease phenotype. Here, we used precise gene editing to generate gene-corrected isogenic control lines for a single pathogenic variant in the USH2A gene (c.2276G > T) associated with retinitis pigmentosa (RP). Both homozygously and heterozygously corrected cell lines were successfully generated. These cell lines will serve to unravel RP phenotype differences specific to the USH2A mutation upon their conversion into disease relevant cell types.
Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
Datos de la publicación
- ISSN/ISSNe:
- 1873-5061, 1876-7753
- Tipo:
- Article
- Páginas:
- 104094-104094
- PubMed:
- 42710431
Stem Cell Research ELSEVIER
Documentos
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Filiaciones
Cita
Del Buey V,GARCÍA B,GARCÍA G,Gallardo ME,Gamundi MJ,Ellederova Z,AYUSO C,MILLÁN JM,ERCEG S,Lukovic D. Generation of isogenic gene-corrected cell lines from a USH2A-RP patient-derived iPS cell line. Stem Cell Res. 2026. 96. p. 104094-104094. IF:0,600. (4).