ID   IMAGINi007-A
AC   CVCL_ZZ83
SY   IMAGINE007
DR   hPSCreg; IMAGINi007-A
DR   Wikidata; Q102114215
RX   PubMed=32585588;
CC   From: Imagine Institute; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:13394; NPHS2; Simple; p.Arg138Gln (c.413G>A); ClinVar=VCV000005360; Zygosity=Homozygous (PubMed=32585588).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123095; Nephrotic syndrome - NPHS2 associated
DI   ORDO; Orphanet_656; Genetic steroid-resistant nephrotic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
RX   PubMed=32585588; DOI=10.1016/j.scr.2020.101878;
RA   Menara G., Lefort N., Antignac C., Mollet G.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome
RT   carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2
RT   gene.";
RL   Stem Cell Res. 46:101878-101878(2020).
//