Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
05
12
2021
revised:
28
01
2022
accepted:
23
02
2022
pubmed:
6
3
2022
medline:
16
4
2022
entrez:
5
3
2022
Statut:
ppublish
Résumé
Heterozygous mutations within Keratin 5 (KRT5) are common genetic causes of epidermolysis bullosa simplex (EBS), a skin fragility disorder characterized by blisters, which appear after minor trauma. Using CytoTune®Sendai virus, we generated three human induced pluripotent stem cell (iPSC) lines from three EBS patients carrying respectively the single heterozygous mutations in KRT5, c.449 T > C, c.980 T > C, and c.608 T > C. All lines display normal karyotype, expressed high levels of pluripotent markers, and can differentiate into derivatives of the three germ layers. These iPSCs are helpful for a better understanding of the EBS pathogenesis and developing novel therapeutic approaches.
Identifiants
pubmed: 35247839
pii: S1873-5061(22)00075-7
doi: 10.1016/j.scr.2022.102726
pii:
doi:
Substances chimiques
KRT5 protein, human
0
Keratin-5
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102726Informations de copyright
Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.