Cellosaurus cell line UQACi003-A (CVCL

Cross-references
Cell line name	UQACi003-A
Synonyms	iPSC-EBS2
Accession	CVCL_C0G7
Resource Identification Initiative	To cite this cell line use: UQACi003-A (RRID:CVCL_C0G7)
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:6442; KRT5; Simple; p.Leu150Pro (c.449T>C); ClinVar=VCV000066241; Zygosity=Heterozygous (PubMed=35247839).
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	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=35247839; DOI=10.1016/j.scr.2022.102726 Bchetnia M., Martineau L., Racine V., Powell J., McCuaig C., Morin C., Duperee A., Gros-Louis F., Laprise C. Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations. Stem Cell Res. 60:102726-102726(2022)
Cell line databases/resources	hPSCreg; UQACi003-A
Biological sample resources	BioSamples; SAMEA10379660
Encyclopedic resources	Wikidata; Q112930529
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5