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Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations
- Source :
- Stem Cell Research, Vol 60, Iss , Pp 102726- (2022)
- Publication Year :
- 2022
- Publisher :
- Elsevier, 2022.
-
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.
- Subjects :
- Biology (General)
QH301-705.5
Subjects
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 60
- Issue :
- 102726-
- Database :
- Directory of Open Access Journals
- Journal :
- Stem Cell Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.3b9f4d29cb264105bd7d113e222b0ad3
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.scr.2022.102726