RT Journal Article
T1 Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
A1 de la Cerda, Berta
A1 Díez-Lloret, Andrea
A1 Ponte, Beatriz
A1 Vallés-Saiz, Laura
A1 Calado, Sofia M
A1 Rodríguez-Bocanegra, Eduardo
A1 Garcia-Delgado, Ana B
A1 Moya-Molina, Marina
A1 Bhattacharya, Shom S
A1 Díaz-Corrales, Francisco J
AB 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 mononuclear cells were reprogrammed using the non-integrative Sendai virus to generate the cell line CABi001-A. The iPSC line has been characterized for pluripotency and differentiation capacity and will be differentiated toward photoreceptors and retinal pigment epithelium cells to study the molecular mechanism of the disease and test possible therapeutic strategies.
YR 2019
FD 2019-03-20
LK http://hdl.handle.net/10668/13766
UL http://hdl.handle.net/10668/13766
LA en
DS RISalud
RD Apr 12, 2025