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Cellosaurus GM07546 (CVCL_N068)

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Cell line name GM07546
Synonyms GM17075
Accession CVCL_N068
Resource Identification Initiative To cite this cell line use: GM07546 (RRID:CVCL_N068)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Puerto Rican.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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=GM17075).
HLA typing Source: PubMed=29959025
Class I
HLA-AA*11:01:01,32:01:01
HLA-BB*49:01:01,49:01:01
HLA-CC*07:01:01,07:01:01
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*02:01:02,04:01:01
HLA-DQDQA1*01:02:01,05:05:01
DQB1*03:01:01,06:02:01
HLA-DRDRB1*11:01:01,15:01:01
DRB3*02:02:01
DRB5*01:01:01
Disease Osteopetrosis with renal tubular acidosis (NCIt: C118438)
Osteopetrosis with renal tubular acidosis (ORDO: Orphanet_2785)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson, Ruth Epstein-Baak, Nikolina Babic, Maria P. Bettinotti, Arlene M. Buller-Burckle, Kenneth G. Butz, Matthew Campbell, Chris Civalier, Abdalla El-Badry ...Show all 29 authors... , Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason McKinney, Kasinathan Muralidharan, LeAnne Noll, Tara Sander, Junaid Shabbeer, Ching-Ying Huang Smith, Milhan Telatar, Lorraine H. Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang-Teck J. Yeo, Markus Zeller, Lisa V. Kalman; Show fewer authors
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Maria P. Bettinotti, Deborah Ferriola, Jamie L. Duke, Timothy L. Mosbruger, Nikolaos Tairis, Lawrence Jennings, Lisa V. Kalman, Dimitrios S. Monos;
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

Cross-references
Cell line collections (Providers) Coriell; GM07546
Coriell; GM17075
Cell line databases/resources CLO; CLO_0014606
CLO; CLO_0016385
Encyclopedic resources Wikidata; Q54842849
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number20