Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 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 2023
02 2023
Historique:
received:
08
07
2022
revised:
04
12
2022
accepted:
07
12
2022
pubmed:
16
12
2022
medline:
17
1
2023
entrez:
15
12
2022
Statut:
ppublish
Résumé
We produced an iPSC line from a patient with Joubert syndrome carrying the homozygous c.787dupC variant in the AHI1 gene. The iPSC line was obtained by reprogramming skin fibroblasts, mycoplasma-free, using Sendai-virus-based technique. Characterization of iPSCs showed the same Short Tandem Repeats profile than fibroblasts, normal karyotype, expression of staminal markers (OCT4, SOX2, SSEA4 and NANOG) and ability to differentiate into three germ layers in vitro.
Identifiants
pubmed: 36521382
pii: S1873-5061(22)00351-8
doi: 10.1016/j.scr.2022.103002
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103002Informations de copyright
Copyright © 2022. 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.