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Cellosaurus UQACi003-A (CVCL_C0G7)

[Text version]
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; 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

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 creation23-Jun-2022
Last entry update29-Jun-2023
Version number4