ID   BGUi001-A
AC   CVCL_A9XC
SY   BGU01iPORCTR; BGU001iPOR CTR; BGU01iPORhet
DR   BioSamples; SAMEA7873753
DR   hPSCreg; BGUi001-A
DR   Wikidata; Q102113614
RX   PubMed=32905996;
WW   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; 9208; POR; Simple; p.Gly536Arg (c.1606G>A) (p.Gly539Arg, c.1615G>A) (1697G>A); ClinVar=VCV000016915; Zygosity=Heterozygous (PubMed=32905996).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 02-05-24; Version: 7
//
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).
//