Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
19
12
2018
revised:
10
01
2019
accepted:
16
01
2019
pubmed:
28
1
2019
medline:
5
9
2019
entrez:
28
1
2019
Statut:
ppublish
Résumé
Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Sendai virus-based approach. The iPSC line had a normal karyotype, carried the two PDE6A mutations, expressed pluripotency markers and could generate endoderm, mesoderm and ectoderm in vitro. Resource table.
Identifiants
pubmed: 30685614
pii: S1873-5061(19)30013-3
doi: 10.1016/j.scr.2019.101385
pii:
doi:
Substances chimiques
Eye Proteins
0
Cyclic Nucleotide Phosphodiesterases, Type 6
EC 3.1.4.35
PDE6A protein, human
EC 3.1.4.35
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101385Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.