Generation of an induced pluripotent stem cell line (LVPEIi002-A) with heterozygous RB1 mutation using peri-orbital fat derived mesenchymal cells of a patient with inherited retinoblastoma.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
06 Feb 2024
06 Feb 2024
Historique:
received:
20
09
2023
revised:
30
12
2023
accepted:
01
02
2024
medline:
10
2
2024
pubmed:
10
2
2024
entrez:
9
2
2024
Statut:
aheadofprint
Résumé
Retinoblastoma is a pediatric intraocular cancer caused by biallelic inactivation of RB1 gene in retinal progenitor cells. Here, we report the generation of a patient-specific induced pluripotent stem cell (iPSC) line (LVPEIi002-A) from a patient diagnosed with retinoblastoma and showing familial inheritance of a nonsense mutation (c.1735C > T) within exon 18 of one of the two alleles. This RB1
Identifiants
pubmed: 38335663
pii: S1873-5061(24)00027-8
doi: 10.1016/j.scr.2024.103329
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103329Informations de copyright
Copyright © 2024 Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad, India. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.