Description:
HUMAN VARIATION PANEL - WHITE PANEL OF 100 (SET 1)
HUMAN VARIATION PANEL - WHITE PANEL OF 200
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation
Pharmacogenetics
dbGaP |
| Alternate IDs |
GM05398 [HUMAN VARIATION PANEL - WHITE PANEL OF 100 (SET 1)] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Species
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Homo sapiens
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Common Name
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Human
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
124030.0001; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
IVSDS3, G>A, +1; This allelic variant is also known as CYP2D6*4 or CYP2D6(B). In 20 individuals with poor metabolism of debrisoquine (608902), Gough et al. (Nature 347: 773-776, 1990) identified a G-to-A transition at the first nucleotide of exon 4 in the CYP2D6 gene, resulting in a shift of the splice site and introduction of a premature termination codon. The mutant protein had no residual activity. Gough et al. (1990) presented preliminary data suggesting a reduction in the proportion of poor metabolizers among patients with lung or bladder cancer. |
| Kanji CR, Mbavha BT, Masimirembwa C, Thelingwani RS, Analytical validation of GenoPharm a clinical genotyping open array panel of 46 pharmacogenes inclusive of variants unique to people of African ancestry PloS one18:e0292131 2023 |
| PubMed ID: 37788265 |
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| Moon MH, Hong SR, Shin KJ, Sequence Variations of 31 ?-Chromosomal Short Tandem Repeats Analyzed by Massively Parallel Sequencing in Three US Population Groups and Korean Population Journal of Korean medical science37:e40 2021 |
| PubMed ID: 35166077 |
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| Kwon YL, Kim BM, Lee EY, Shin KJ, Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications Scientific reports11:4701 2020 |
| PubMed ID: 33633141 |
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| Ruiz-Deya G, Matta J, Encarnación-Medina J, Ortiz-Sanchéz C, Dutil J, Putney R, Berglund A, Dhillon J, Kim Y, Park JY, Differential DNA Methylation in Prostate Tumors from Puerto Rican Men International journal of molecular sciences22:4701 2020 |
| PubMed ID: 33450964 |
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| 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 investigation22:4701 2018 |
| PubMed ID: 29408807 |
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| 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 |
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| Li L, Fridley B, Kalari K, Jenkins G, Batzler A, Safgren S, Hildebrandt M, Ames M, Schaid D, Wang L, Gemcitabine and Cytosine Arabinoside Cytotoxicity: Association with Lymphoblastoid Cell Expression Cancer research68:7050-7058 2008 |
| PubMed ID: 18757419 |
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| 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 America68:7050-7058 2008 |
| PubMed ID: 18523009 |
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| 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 |
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| Mukherjee B, Salavaggione OE, Pelleymounter LL, Moon I, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM, Glutathione S-transferase omega 1 and omega 2 pharmacogenomics Drug metabolism and disposition: the biological fate of chemicals34:1237-46 2006 |
| PubMed ID: 16638819 |
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| Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM, The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping Journal of biomolecular techniques : JBT16:398-406 2006 |
| PubMed ID: 16522862 |
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| De La Vega FM, Isaac H, Collins A, Scafe CR, Halldorsson BV, Su X, Lippert RA, Wang Y, Laig-Webster M, Koehler RT, Ziegle JS, Wogan LT, Stevens JF, Leinen KM, Olson SJ, Guegler KJ, You X, Xu LH, Hemken HG, Kalush F, Itakura M, Zheng Y, de The G, O'Brien SJ, Clark AG, Istrail S, Hunkapiller MW, Spier EG, Gilbert DA, The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Res15(4):454-62 2005 |
| PubMed ID: 15781572 |
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| Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH, Kennedy GC, High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs American journal of human genetics77:709-26 2005 |
| PubMed ID: 16252233 |
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| Breidenthal SE, White DJ, Glatt CE, Identification of genetic variants in the neuronal form of tryptophan hydroxylase (TPH2). Psychiatr Genet14(2):69-72 2004 |
| PubMed ID: 15167691 |
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| Hu X, Schrodi SJ, Ross DA, Cargill M, Selecting tagging SNPs for association studies using power calculations from genotype data Human heredity57:156-70 2004 |
| PubMed ID: 15297809 |
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| Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004 |
| PubMed ID: 15782172 |
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