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Cellosaurus GM12912 (CVCL_5F21)

[Text version]
Cell line name GM12912
Accession CVCL_5F21
Resource Identification Initiative To cite this cell line use: GM12912 (RRID:CVCL_5F21)
Comments Part of: CEPH/Utah pedigree cell line collection.
Registration: CEPH Families Reference Panel; 158202.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2623; CYP2C9; Simple; p.Arg144Cys (c.430C>T) (416C>T); ClinVar=VCV000008409; Zygosity=Heterozygous; Note=CYP2C9*2 allele (Coriell=GM12912).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Web pages https://www.cephb.fr/en/familles_CEPH.php
Publications

PubMed=16809669; DOI=10.1101/gr.5320706; PMCID=PMC1524869
Cheung V.G., Ewens W.J.
Heterozygous carriers of Nijmegen breakage syndrome have a distinct gene expression phenotype.
Genome Res. 16:973-979(2006)

PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
Cheung V.G., Nayak R.R., Wang I.X.-R., Elwyn S., Cousins S.M., Morley M., Spielman R.S.
Polymorphic cis- and trans-regulation of human gene expression.
PLoS Biol. 8:e1000480.1-e1000480.14(2010)

Cross-references
Cell line collections (Providers) Coriell; GM12912
Cell line databases/resources CLO; CLO_0022884
Encyclopedic resources Wikidata; Q54846221
Gene expression databases GEO; GSM89119
GEO; GSM89120
GEO; GSM207791
GEO; GSM316471
GEO; GSM316472
GEO; GSM316473
GEO; GSM421121
GEO; GSM421122
GEO; GSM905910
GEO; GSM906005
GEO; GSM906100
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number20