TY  - JOUR
AU  - de la Cerda, Berta
AU  - Díez-Lloret, Andrea
AU  - Ponte, Beatriz
AU  - Vallés-Saiz, Laura
AU  - Calado, Sofia M
AU  - Rodríguez-Bocanegra, Eduardo
AU  - Garcia-Delgado, Ana B
AU  - Moya-Molina, Marina
AU  - Bhattacharya, Shom S
AU  - Díaz-Corrales, Francisco J
PY  - 2019
DO  - 10.1016/j.scr.2019.101426
UR  - http://hdl.handle.net/10668/13766
T2  - Stem cell research
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...
LA  - en
KW  - Aged
KW  - Cell Differentiation
KW  - Cell Line
KW  - Cellular Reprogramming Techniques
KW  - Eye Proteins
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Induced Pluripotent Stem Cells
KW  - Karyotype
KW  - Leukocytes, Mononuclear
KW  - Point Mutation
KW  - Retinitis Pigmentosa
TI  - Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
TY  - research article
VL  - 36
ER  -