Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
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
A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c.8693A > C (p.Tyr2898Ser). Skin fibroblasts were infected with Sendai virus containing the Yamanaka factors and the resulting cells were fully characterized to confirm successful reprogramming. The iPSC line expressed several pluripotency markers, could generate the three germ layers, had a normal karyotype, carried the two USH2A mutations and was free of Sendai virus. This cell line will serve as a model to unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration.
Identifiants
pubmed: 30685615
pii: S1873-5061(19)30014-5
doi: 10.1016/j.scr.2019.101386
pii:
doi:
Substances chimiques
Extracellular Matrix Proteins
0
USH2A protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101386Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.