Cellosaurus cell line IMAGINi007-A (CVCL

Cross-references
Cell line name	IMAGINi007-A
Synonyms	IMAGINE007
Accession	CVCL_ZZ83
Resource Identification Initiative	To cite this cell line use: IMAGINi007-A (RRID:CVCL_ZZ83)
Comments	From: Imagine Institute; Paris; France. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:13394; NPHS2; Simple; p.Arg138Gln (c.413G>A); ClinVar=VCV000005360; Zygosity=Homozygous (PubMed=32585588).
Disease	Nephrotic syndrome - NPHS2 associated (NCIt: C123095) Genetic steroid-resistant nephrotic syndrome (ORDO: Orphanet_656)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	22Y
Category	Induced pluripotent stem cell
Publications	PubMed=32585588; DOI=10.1016/j.scr.2020.101878 Menara G., Lefort N., Antignac C., Mollet G. Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene. Stem Cell Res. 46:101878-101878(2020)
Cell line databases/resources	hPSCreg; IMAGINi007-A
Encyclopedic resources	Wikidata; Q102114215
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6