ID   BGUi003-A
AC   CVCL_A9XE
SY   BGU03iPOR
DR   BioSamples; SAMEA8072994
DR   hPSCreg; BGUi003-A
DR   Wikidata; Q102113617
RX   PubMed=32905996;
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Bedouin.
CC   Sequence variation: Mutation; HGNC; 9208; POR; Simple; p.Gly536Arg (c.1606G>A) (p.Gly539Arg, c.1615G>A) (1697G>A); ClinVar=VCV000016915; Zygosity=Homozygous (PubMed=32905996).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C174439; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
DI   ORDO; Orphanet_95699; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 17-03-22; Version: 4
//
RX   PubMed=32905996; DOI=10.1016/j.scr.2020.101975;
RA   Zlotnik D., Rabinski T., Ofir R., Hershkovitz E., Vatine G.D.;
RT   "Generation of iPSC lines from two (BGUi002-A and BGUi003-A)
RT   homozygous p450 oxidoreductase-deficient patients and from one
RT   (BGUi001-A) heterozygous healthy family relative.";
RL   Stem Cell Res. 48:101975-101975(2020).
//