Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Pharmacogenetics
Alternate IDs GM14660 [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 10]
GM17188 [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 10]
Quantity 0.050mg
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 variant CYP2D6 gene (CYP2D6*17) which contains three amino acid substitutions: a C>T mutation at nucleotide 1111 resulting in thr107-to-ile substitution [Thr107Ile (T107I)] , 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)]
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 1 T107I; R296C; S486T; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation THR107ILE, ARG296CYS, AND SER486THR; This allelic variant is also known as CYP2D6*17 or CYP2D6(Z). Oscarson et al (Mol Pharmacol 52(6):1034-40, 1997) found that in many black African populations, the capacity for CYP2D6-dependent drug metabolism is generally reduced. A specific variant of the CYP2D6 gene (CYP2D6*17) that carries three functional mutations (T107I, R296C, and S486T) has been found to be present in Zimbabwean subjects with impaired CYP2D6-dependent hydroxylase activity.
Remark Donor subject is heterozygous for a variant CYP2D6 gene (CYP2D6*17) which contains three amino acid substitutions: a C>T mutation at nucleotide 1111 resulting in thr107-to-ile substitution [Thr107Ile (T107I)] , 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)]
Wang X, Abudu A, Son S, Dang Y, Venta PJ, Zheng YH, Analysis of Human APOBEC3H Haplotypes and Anti-Human Immunodeficiency Virus Type-1 Activity Journal of virology85(7):3142-52 2011
PubMed ID: 21270145
 
Gonzalez-Covarrubias V, Ghosh D, Lakhman SS, Pendyala L, Blanco JG, A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity Drug metabolism and disposition: the biological fate of chemicals35:973-80 2007
PubMed ID: 17344335
 
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN, Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet74(6):1111-20 2004
PubMed ID: 15114531
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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