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

TitleGeneration of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.
Publication TypeJournal Article
Year of Publication2022
AuteursBchetnia, M, Martineau, L, Racine, V, Powell, J, McCuaig, C, Morin, C, Dupérée, A, Gros-Louis, F, Laprise, C
JournalStem Cell Res
Volume60
Pagination102726
Date Published2022 Apr
ISSN1876-7753
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.

DOI10.1016/j.scr.2022.102726
Alternate JournalStem Cell Res
PubMed ID35247839