ID   BGUi002-A
AC   CVCL_A9XD
SY   BGU02iPOR; BGU002iPOR
DR   BioSamples; SAMEA8072993
DR   hPSCreg; BGUi002-A
DR   Wikidata; Q102113615
RX   PubMed=32905996;
WW   Provider; BGU; -; https://www.vatinelab.com/about-3
CC   From: Ben Gurion University of the Negev; Beer Sheva; Israel.
CC   Population: Bedouin.
CC   Sequence variation: Mutation; HGNC; 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 site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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 (Human)
SX   Male
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=32905996; DOI=10.1016/j.scr.2020.101975;
RA   Zlotnik, Dor
RA   Rabinski, Tatiana
RA   Ofir, Rivka
RA   Hershkovitz, Eli
RA   Vatine, Gad 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).
//