ID   GM12912
AC   CVCL_5F21
DR   CLO; CLO_0022884
DR   Coriell; GM12912
DR   GEO; GSM89119
DR   GEO; GSM89120
DR   GEO; GSM207791
DR   GEO; GSM316471
DR   GEO; GSM316472
DR   GEO; GSM316473
DR   GEO; GSM421121
DR   GEO; GSM421122
DR   GEO; GSM905910
DR   GEO; GSM906005
DR   GEO; GSM906100
DR   Wikidata; Q54846221
RX   PubMed=16809669;
RX   PubMed=20856902;
WW   https://www.cephb.fr/en/familles_CEPH.php
CC   Part of: CEPH/Utah pedigree cell line collection.
CC   Registration: CEPH Families Reference Panel; 158202.
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell=GM12912).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 30-01-24; Version: 19
//
RX   PubMed=16809669; DOI=10.1101/gr.5320706;
RA   Cheung V.G., Ewens W.J.;
RT   "Heterozygous carriers of Nijmegen breakage syndrome have a distinct
RT   gene expression phenotype.";
RL   Genome Res. 16:973-979(2006).
//
RX   PubMed=20856902; DOI=10.1371/journal.pbio.1000480;
RA   Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M.,
RA   Spielman R.S.;
RT   "Polymorphic cis- and trans-regulation of human gene expression.";
RL   PLoS Biol. 8:e1000480.1-e1000480.14(2010).
//