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Cellosaurus UQACi007-A (CVCL_C0GC)

[Text version]
Cell line name UQACi007-A
Synonyms iPSC-EBS29
Accession CVCL_C0GC
Resource Identification Initiative To cite this cell line use: UQACi007-A (RRID:CVCL_C0GC)
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.Ile377Thr (c.1130T>C); ClinVar=VCV000066303; Zygosity=Heterozygous (hPSCreg=UQACi007-A).
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
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UQACi007-A
Biological sample resources BioSamples; SAMEA10379664
Encyclopedic resources Wikidata; Q112930533
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4