Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retinitis pigmentosa. A blood sample was obtained and mo...

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Bibliographic Details
Main Authors: Berta de la Cerda, Andrea Díez-Lloret, Beatriz Ponte, Laura Vallés-Saiz, Sofia M. Calado, Eduardo Rodríguez-Bocanegra, Ana B. Garcia-Delgado, Marina Moya-Molina, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Format: Article
Language:English
Published: Elsevier 2019-04-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350611930056X

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