Cellosaurus cell line IMAGINi003-A (CVCL

Cross-references
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; 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 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; IMAGINi003-A
Biological sample resources	BioSamples; SAMEA112904731
Encyclopedic resources	Wikidata; Q123032675
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3