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NA17075 DNA from LCL

Description:

HUMAN VARIATION PANEL - PUERTO RICAN
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
SNP500 PANEL

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Pharmacogenetics
GeT-RM Samples
Alternate IDs GM07546 [HUMAN VARIATION PANEL - PUERTO RICAN]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Species Homo sapiens
Common Name Human
Remarks donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Pharmacogenomics Panel For pharmacogenetic variants please click here: GeT-RM PGx Search
 

Phenotypic Data

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Remarks donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]

Publications

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Pratt VM, Turner A, Broeckel U, Dawson DB, Gaedigk A, Lynnes TC, Medeiros EB, Moyer AM, Requesens D, Ventrini F, Kalman LV, Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status - A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD: 2021
PubMed ID: 34020041
 
Talal AH, Ding Y, Venuto CS, Chakan LM, McLeod A, Dharia A, Morse GD, Brown LS, Markatou M, Kharasch ED, Toward precision prescribing for methadone: Determinants of methadone deposition PloS one15:e0231467 2019
PubMed ID: 32302325
 
Bettinotti MP1, Ferriola D2, Duke JL2, Mosbruger TL2, Tairis N2, Jennings L3, Kalman LV4, Monos D5., Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project. Journal of Molecular Diagnostics18:30111-30119 2018
PubMed ID: 29959025
 
Sebastian T1, Cooney CG2, Parker J2, Qu P2, Perov A2, Golova JB2, Pozza L3, Iwasiow RM3, Holmberg R2., Integrated amplification microarray system in a lateral flow cell for warfarin genotyping from saliva. Clin Chim Acta.429C:198-205 2013
PubMed ID: 24360850
 
Fairbanks DJ, Fairbanks AD, Ogden TH, Parker GJ, Maughan PJ, NANOGP8: evolution of a human-specific retro-oncogene G3 (Bethesda, Md)2:1447-57 2012
PubMed ID: 23173096
 
Pratt VM, Zehnbauer B, Wilson JA, Baak R, Babic N, Bettinotti M, Buller A, Butz K, Campbell M, Civalier C, El-Badry A, Farkas DH, Lyon E, Mandal S, McKinney J, Muralidharan K, Noll L, Sander T, Shabbeer J, Smith C, Telatar M, Toji L, Vairavan A, Vance C, Weck KE, Wu AH, Yeo KT, Zeller M, and Kalman L., Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1 J Mol Diagn12(6):835-46 2010
PubMed ID: 20889555
 
Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J, The prevalence of folate-remedial MTHFR enzyme variants in humans Proceedings of the National Academy of Sciences of the United States of America12(6):835-46 2008
PubMed ID: 18523009
 
Wong KK, Deleeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, Macaulay C, Ng RT, Brown CJ, Eichler EE, Lam WL, A comprehensive analysis of common copy-number variations in the human genome American journal of human genetics80:91-104 2006
PubMed ID: 17160897
 
Hurley JD, Engle LJ, Davis JT, Welsh AM, Landers JE, A simple, bead-based approach for multi-SNP molecular haplotyping Nucleic acids research32:e186 2005
PubMed ID: 15637233
 
Sansbury LB, Millikan RC, Schroeder JC, North KE, Moorman PG, Keku TO, de Cotret AR, Player J, Sandler RS, COX-2 polymorphism, use of nonsteroidal anti-inflammatory drugs, and risk of colon cancer in African Americans (United States) Cancer causes & control : CCC17:257-66 2005
PubMed ID: 16489533

External Links

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dbSNP dbSNP ID: 12453
Gene Cards CYP2C9
Gene Ontology GO:0004497 monooxygenase activity
GO:0005783 endoplasmic reticulum
GO:0005792 microsome
GO:0006118 electron transport
GO:0016020 membrane
GO:0018676 (S)-limonene 7-monooxygenase activity
GEO GEO Accession No: GSM123891
GEO Accession No: GSM124443
NCBI Gene Gene ID:1559
NCBI GTR 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
OMIM 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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