Cellosaurus cell line IMAGINi002-A (CVCL

Cross-references
Cell line name	IMAGINi002-A
Synonyms	IMAGINE002; EBDR-K142R-iPSCs
Accession	CVCL_D0FG
Resource Identification Initiative	To cite this cell line use: IMAGINi002-A (RRID:CVCL_D0FG)
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; HGNC:2214; COL7A1; Simple; p.Lys142Arg (c.425A>G); ClinVar=VCV000029636; 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	4Y
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)
Cell line databases/resources	hPSCreg; IMAGINi002-A
Biological sample resources	BioSamples; SAMEA112903620
Encyclopedic resources	Wikidata; Q123032674
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3