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Cellosaurus UQACi001-A (CVCL_YC63)

[Text version]

Cell line name UQACi001-A
Synonyms iPSC-EBS21
Accession CVCL_YC63
Resource Identification Initiative To cite this cell line use: UQACi001-A (RRID:CVCL_YC63)
Comments From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada.
Derived from sampling site: Skin; dermis.
Sequence variations Heterozygous for KRT14 p.Arg125Ser (c.373C>A) (PubMed=32179493).
Disease Epidermolysis bullosa simplex (NCIt: C84692)
Epidermolysis bullosa simplex, generalized severe (ORDO: Orphanet_79396)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=32179493; DOI=10.1016/j.scr.2020.101748
Bchetnia M., Martineau L., Racine V., Powell J., McCuaig C., Puymirat J., Laprise C.
Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene.
Stem Cell Res. 44:101748-101748(2020)

Cross-references
Cell line databases/resources hPSCreg; UQACi001-A
Biological sample resources BioSamples; SAMEA6114044
Other Wikidata; Q98134343
Entry history
Entry creation19-Dec-2019
Last entry update29-Oct-2020
Version number4