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Cellosaurus UQACi005-A (CVCL_C0GB)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UQACi005-A
Biological sample resources BioSamples; SAMEA10379662
Encyclopedic resources Wikidata; Q112930531
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4