Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
02 Dec 2023
02 Dec 2023
Historique:
received:
13
08
2023
revised:
21
11
2023
accepted:
30
11
2023
medline:
16
12
2023
pubmed:
16
12
2023
entrez:
15
12
2023
Statut:
aheadofprint
Résumé
We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).
Identifiants
pubmed: 38100914
pii: S1873-5061(23)00253-2
doi: 10.1016/j.scr.2023.103267
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103267Informations de copyright
Copyright © 2023. Published by Elsevier B.V.
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.