Cellosaurus logo
expasy logo

Cellosaurus UQACi002-A (CVCL_C0GA)

[Text version]
Cell line name UQACi002-A
Synonyms iPSC-EBS1
Accession CVCL_C0GA
Resource Identification Initiative To cite this cell line use: UQACi002-A (RRID:CVCL_C0GA)
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 (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 Male
Age at sampling 30Y
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; UQACi002-A
Biological sample resources BioSamples; SAMEA10289463
Encyclopedic resources Wikidata; Q112930528
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4