Avtor/Urednik     Kolundzic, Nikola; Khurana, Preeti; Devito, Liani; Jeriha, Jakob; Marx, Jennifer; Hobbs, Carl; Wong, Xuan Fei Colin Cornelius; Common, John E. A.; Liović, Mirjana; Ilic, Dusko
Naslov     Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin
Tip     članek
Vol. in št.     , št. Vol. 39
Leto izdaje     2019
Obseg     str. 1-6
ISSN     1876-7753 - Stem cell research
Jezik     eng
Abstrakt     We have generated an induced pluripotent stem cell (iPSC) line KCLi003-A (iOP101) from epidermal keratinocytes of a female donor, heterozygous for the loss-of-function mutation p.R501X in the filaggrin gene (FLG), using non-integrating Sendai virus vectors. Derivation and expansion of iPSCs were performed under xeno-free culture conditions. Characterization and validation of KCLi003-A line included molecular karyotyping, mutation screening using restriction enzyme digestion, next generation sequencing (NGS), while pluripotency and differentiation potential were confirmed by expression of associated markers in vitro and by in vivo teratoma assay.
Proste vsebinske oznake     matične celice
filargin
mutacija
stem cell
filaggrin
mutation