Generation of a human induced pluripotent stem cell line from a patient with dent disease.
CLCN5 gene
Dent disease
Human induced pluripotent stem cells
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
17
02
2023
revised:
24
05
2023
accepted:
07
06
2023
medline:
8
9
2023
pubmed:
26
6
2023
entrez:
25
6
2023
Statut:
ppublish
Résumé
Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC) line from peripheral blood mononuclear cells of 10-year-old male with Dent disease 1 caused by the mutation of Chloride Voltage-Gated Channel 5 gene. This hiPSCs displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers. The implications of this research extend to the potential development of novel treatments for Dent disease.
Identifiants
pubmed: 37356184
pii: S1873-5061(23)00126-5
doi: 10.1016/j.scr.2023.103140
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103140Informations de copyright
Copyright © 2023 The Author(s). 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.