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Cellosaurus UQACi006-A (CVCL_C0G9)

[Text version]
Cell line name UQACi006-A
Synonyms iPSC-EBS26
Accession CVCL_C0G9
Resource Identification Initiative To cite this cell line use: UQACi006-A (RRID:CVCL_C0G9)
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.Leu203Pro (c.608T>C); 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 Female
Age at sampling 51Y
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)

Cross-references
Cell line databases/resources hPSCreg; UQACi006-A
Biological sample resources BioSamples; SAMEA10379663
Encyclopedic resources Wikidata; Q112930532
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5