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 Camille Vincent, Nathalie Lefort, Matthieu Hamlin, Celine Banal, Alain Hovnanian, Araksya Izmiryan; 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