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Cellosaurus IMAGINi003-A (CVCL_D0FH)

[Text version]
Cell line name IMAGINi003-A
Synonyms IMAGINE003; EBDR-Q2170*-iPSCs
Accession CVCL_D0FH
Resource Identification Initiative To cite this cell line use: IMAGINi003-A (RRID:CVCL_D0FH)
Comments From: Imagine Institute; Paris; France.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2214; COL7A1; Simple; p.Gln2170Ter (c.6508C>T); ClinVar=VCV001069041; Zygosity=Homozygous (PubMed=37148821).
Disease Epidermolysis bullosa dystrophica (NCIt: C84691)
Dystrophic epidermolysis bullosa (ORDO: Orphanet_303)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=37148821; DOI=10.1016/j.scr.2023.103104
Vincent C., Lefort N., Hamlin M., Banal C., Hovnanian A., Izmiryan A.
Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis bullosa.
Stem Cell Res. 69:103104-103104(2023)

Cross-references
Cell line databases/resources hPSCreg; IMAGINi003-A
Biological sample resources BioSamples; SAMEA112904731
Encyclopedic resources Wikidata; Q123032675
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2