Cellosaurus cell line UQACi005-A (CVCL

Cross-references
Cell line name	UQACi005-A
Synonyms	iPSC-EBS10
Accession	CVCL_C0GB
Resource Identification Initiative	To cite this cell line use: UQACi005-A (RRID:CVCL_C0GB)
Comments	From: Universite du Quebec a Chicoutimi; Chicoutimi; Canada. Population: Caucasian. 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.Ile412Phe (c.1234A>T); ClinVar=VCV000066317; Zygosity=Heterozygous (PubMed=35334406).
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	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=35334406; DOI=10.1016/j.scr.2022.102750 Bchetnia M., Martineau L., Racine V., Powell J., McCuaig C., Morin C., Duperee A., Gros-Louis F., Laprise C. Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations. Stem Cell Res. 61:102750-102750(2022)
Cell line databases/resources	hPSCreg; UQACi005-A
Biological sample resources	BioSamples; SAMEA10379662
Encyclopedic resources	Wikidata; Q112930531
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5