Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Bchetnia M, Martineau L, Racine V, Powell J, McCuaig C, Morin C, Dupérée A, Gros-Louis F, Laprise C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102726 |
| PubMed | 35247839 |
| DOI | 10.1016/j.scr.2022.102726 |