Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Pharmacogenetics
GeT-RM Samples
dbGaP
Alternate IDs GM08036 [HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Species Homo sapiens
Common Name Human
Remarks Donor subject is heterozygous for a T>C change at nucleotide 358 (358T>C) in exon 3 of the CYP2C19 gene (CYP2C19*8) which results in a substitution of an arginine for tryptophan at codon 120 [Trp120Arg (W120R)] and donor subject is also a compound heterozygote with respect to CYP2D6: one allele has a variant CYP2D6 gene (CYP2D6*2) which contains two amino acid substitutions: a C>T transition at nucleotide 2938 in exon 6 resulting in an arg296-to-cys [Arg296Cys (R296C)] and a G>C transversion at nucleotide 4268 in exon 9 resulting in a ser486-to-thr [Ser486Thr (S486T)]; a second allele has a 1 bp deletion at nucleotide 2637 (2637delA) in exon 5 (CYP2D6*3)
Pharmacogenomics Panel For pharmacogenetic variants please click here: Pharmacogenomics Panel
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CYP2C19
Chromosomal Location 10q23.33
Allelic Variant 1 W120R; MEPHENYTOIN 4-HYDROXYLASE POOR METABOLIZER
Identified Mutation TRP120ARG
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 1 124030.0006; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation 1-BP DEL, 2549A; This allelic variant is also known as CYP2D6*3 or CYP2D6(A). Marez et al. (Pharmacogenetics 7: 193-202, 1997) identified a 1-bp deletion (2637A) in exon 5 of the CYP2D6 gene in a group of individuals with the poor metabolizer phenotype (608902).
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 2 124030.0007; DEBRISOQUINE, ULTRARAPID METABOLISM OF
Identified Mutation ARG296CYS AND SER486THR; This allelic variant is also known as CYP2D6*2 or CYP2D6L. In a family in which 2 sibs and their father had MRs of less that 0.02 (ultrarapid phenotype, see 608902), Johansson et al. (Proc Nat Acad Sci 90:11825-11829, 1993) found 12 extra copies of the CYP2D6 gene inherited in an autosomal dominant pattern; in a second family in which 2 sibs had MRs of less than 0.1, the authors found 2 extra copies of the CYP2D6 gene. All affected individuals had a variant CYP2D6 gene, termed CYP2D6L, which contained 2 amino acid substitutions: a 2938C-T transition in exon 6, resulting in an arg296-to-cys (R296C), and a 4268G-to-C transversion in exon 9, resulting in a resulting in a ser486-to-thr (S486T) substitution. The MR of individuals with 1 copy of the CYP2D6L gene did not differ from those with the wildtype gene, but there was a correlation between decreased MR and increased copies of the CYP2D6L gene.
Remark Donor subject is heterozygous for a T>C change at nucleotide 358 (358T>C) in exon 3 of the CYP2C19 gene (CYP2C19*8) which results in a substitution of an arginine for tryptophan at codon 120 [Trp120Arg (W120R)] and donor subject is also a compound heterozygote with respect to CYP2D6: one allele has a variant CYP2D6 gene (CYP2D6*2) which contains two amino acid substitutions: a C>T transition at nucleotide 2938 in exon 6 resulting in an arg296-to-cys [Arg296Cys (R296C)] and a G>C transversion at nucleotide 4268 in exon 9 resulting in a ser486-to-thr [Ser486Thr (S486T)]; a second allele has a 1 bp deletion at nucleotide 2637 (2637delA) in exon 5 (CYP2D6*3)
Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S, Modifier variant of METTL13 suppresses human GAB1-associated profound deafness The Journal of clinical investigation: 2018
PubMed ID: 29408807
 
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
 
Lee CC, McMillin GA, Babic N, Melis R, Yeo KT, Evaluation of a CYP2C19 genotype panel on the GenMark eSensor® platform and the comparison to the Autogenomics Infiniti™ and Luminex CYP2C19 panels Clinica chimica acta; international journal of clinical chemistry412(11-12):133-7 2010
PubMed ID: 21385571
 
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 America412(11-12):133-7 2008
PubMed ID: 18523009
 
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM, Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes Circulation115:432-41 2007
PubMed ID: 17242276
 
Melis, R., Lyon, E., and McMillin, G.A., Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays Expert Rev Mol Diagn6(6):811-20 2006
PubMed ID: 17140368
No data is available
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium