ID   IRFMNi002-B
AC   CVCL_UJ77
SY   PRM#18
DR   BioSamples; SAMEA4975314
DR   hPSCreg; IRFMNi002-B
DR   Wikidata; Q94323817
RX   PubMed=30399566;
CC   From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:8616; PAX2; Simple; p.Gly189Arg (c.565G>A); ClinVar=VCV000155928; Zygosity=Heterozygous (PubMed=30399566).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202604; Focal segmental glomerulosclerosis 7
DI   ORDO; Orphanet_656; Genetic steroid-resistant nephrotic syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VL43 ! IRFMNi002-A
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30399566; DOI=10.1016/j.scr.2018.10.018; PMCID=PMC6288238;
RA   Ciampi O., Romano E., Benigni A., Tomasoni S.;
RT   "Generation of two isogenic iPS cell lines (IRFMNi002-A and
RT   IRFMNi002-B) from a patient affected by focal segmental
RT   glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2
RT   gene.";
RL   Stem Cell Res. 33:175-179(2018).
//