|Title||Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.|
|Publication Type||Journal Article|
|Year of Publication||2022|
|Authors||Bchetnia, M, Martineau, L, Racine, V, Powell, J, McCuaig, C, Morin, C, Dupérée, A, Gros-Louis, F, Laprise, C|
|Journal||Stem Cell Res|
|Date Published||2022 Apr|
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.
|Alternate Journal||Stem Cell Res|