Bchetnia Mbarka, Martineau Laurie, Racine Véronique, Powell Julie, McCuaig Catherine, Morin Charles, Dupérée Audrey, Gros-Louis François et Laprise Catherine. (2022). Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations. Stem Cell Research, 60, e102726.
Prévisualisation |
PDF
- Version publiée
Disponible sous licence Creative Commons (CC-BY-NC-ND 2.5). 4MB |
URL officielle: http://dx.doi.org/doi:10.1016/j.scr.2022.102726
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.
| Type de document: | Article publié dans une revue avec comité d'évaluation |
|---|---|
| ISSN: | 18735061 |
| Volume: | 60 |
| Pages: | e102726 |
| Version évaluée par les pairs: | Oui |
| Date: | 2022 |
| Identifiant unique: | 10.1016/j.scr.2022.102726 |
| Sujets: | Sciences de la santé > Sciences médicales > Dermatologie Sciences de la santé > Sciences médicales > Génétique |
| Département, module, service et unité de recherche: | Départements et modules > Département des sciences fondamentales |
| Mots-clés: | Epidermolysis bullosa simplex, heterozygote, Humans, induced pluripotent stem cells, Keratin-5, mutation, pathology |
| Déposé le: | 09 mai 2022 16:57 |
|---|---|
| Dernière modification: | 09 mai 2022 16:57 |
Éditer le document (administrateurs uniquement)
Altmetric
Altmetric