ID   IRFMNi002-A
AC   CVCL_VL43
SY   PRM#14
DR   BioSamples; SAMEA4891335
DR   hPSCreg; IRFMNi002-A
RX   PubMed=30399566;
CC   From: Istituto di Ricerche Farmacologiche Mario Negri (IRCCS); Bergamo; Italy.
CC   Sequence variation: Heterozygous for PAX2 p.Gly189Arg (c.565G>A) (PubMed=30399566).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C37308; Focal segmental glomerulosclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_UJ77 ! IRFMNi002-B
SX   Female
AG   69Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-19; Version: 3
//
RX   PubMed=30399566; DOI=10.1016/j.scr.2018.10.018;
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).
//