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Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations

Authors :
Mbarka Bchetnia
Laurie Martineau
Véronique Racine
Julie Powell
Catherine McCuaig
Charles Morin
Audrey Dupérée
François Gros-Louis
Catherine Laprise
Source :
Stem Cell Research, Vol 60, Iss , Pp 102726- (2022)
Publication Year :
2022
Publisher :
Elsevier, 2022.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
60
Issue :
102726-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.3b9f4d29cb264105bd7d113e222b0ad3
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2022.102726