Bchetnia Mbarka, Martineau Laurie, Racine Véronique, Powell Julie, McCuaig Catherine, Morin Charles, Dupérée Audrey, Gros-Louis François et Laprise Catherine. (2022). Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations. Stem Cell Research, 61, e102750.
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URL officielle: http://dx.doi.org/doi:10.1016/j.scr.2022.102750
Résumé
More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment. Disease models as human induced pluripotent stem cells (hiPSCs) are promising tool for further advance the knowledge about this disorder and accelerate therapies development. Here, two hiPSC lines were reprogrammed from skin fibroblasts of two EBS patients carrying mutations within KRT14 by using CytoTune®Sendai virus. These iPSCs display pluripotent cell morphology, pluripotent markers expression, and the capability to differentiate into the three germ layers.
| Type de document: | Article publié dans une revue avec comité d'évaluation |
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| ISSN: | 18735061 |
| Volume: | 61 |
| Pages: | e102750 |
| Version évaluée par les pairs: | Oui |
| Date: | 2022 |
| Identifiant unique: | 10.1016/j.scr.2022.102750 |
| Sujets: | Sciences naturelles et génie > Sciences naturelles > Biologie et autres sciences connexes Sciences de la santé > Sciences médicales > Génétique |
| Département, module, service et unité de recherche: | Départements et modules > Département des sciences fondamentales |
| Mots-clés: | Keratin 14 gene, epidermolysis bullosa simplex, EBS, cell differentiation, gene mutation, induced pluripotent stem cell |
| Déposé le: | 21 avr. 2022 22:33 |
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| Dernière modification: | 21 avr. 2022 22:33 |
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