Cellosaurus cell line UQACi001-A (CVCL

Cross-references
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 site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6416; KRT14; Simple; p.Arg125Ser (c.373C>A); ClinVar=VCV001338973; Zygosity=Heterozygous (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 Mbarka Bchetnia, Laurie Martineau, Veronique Racine, Julie Powell, Catherine McCuaig, Jack Puymirat, Catherine Laprise; 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)
Cell line databases/resources	hPSCreg; UQACi001-A
Biological sample resources	BioSamples; SAMEA6114044
Encyclopedic resources	Wikidata; Q98134343
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10