Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
08
01
2023
revised:
14
03
2023
accepted:
16
03
2023
medline:
2
6
2023
pubmed:
7
4
2023
entrez:
6
4
2023
Statut:
ppublish
Résumé
Prolidase deficiency (PD) is a rare autosomal recessive disorder characterized mainly by skin lesions of the legs and feet, respiratory infections and mental retardation, and impaired immune system. To date, no effective PD treatment has been developed. The PD case are caused by homozygous mutation in PEPD gene. The peripheral blood mononuclear cells from a patient carrying homozygous in-frame mutation of the PEPD gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The homozygous in-frame mutation in PEPD will cause the abnormal protein variant. The established human induced pluripotent cell line will enable proper in vitro disease modelling of PD.
Identifiants
pubmed: 37023562
pii: S1873-5061(23)00061-2
doi: 10.1016/j.scr.2023.103075
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
103075Informations 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.