Description:
HUMAN VARIATION PANEL - WHITE PANEL OF 50
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
GeT-RM Samples
dbGaP |
| Alternate IDs |
GM13070 [HUMAN VARIATION PANEL - WHITE PANEL OF 50] |
| 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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Remarks
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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 |
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| Pharmacogenomics Panel |
For pharmacogenetic variants please click here: GeT-RM PGx Search |
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| Gene |
CYP2D6 |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
124030.0005; DEBRISOQUINE, POOR METABOLISM OF |
| Identified Mutation |
PRO34SER; This allelic variant is also known as CYP2D6*10 or CYP2D6(J) or CYP2D6(Ch1, Ch2). Kagimoto et al. (J Biol Chem 265:17209-17214, 1990) identified a 188C-T transition in exon 1 of the CYP2D6 gene, resulting in a pro34-to-ser (P34S) substitution as a cause of the debrisoquine poor metabolizer phenotype (608902). |
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| Gene |
HLA-B |
| Chromosomal Location |
6p21.3 |
| Allelic Variant 1 |
142830.0003; |
| Identified Mutation |
HLA-B*5701 |
| Remarks |
HLA-B*5701 heterozygous/positive. |
| Lin G, Zhang K, Li J, A national proficiency scheme for human leucocyte antigen typing by next-generation sequencing Clinica chimica acta; international journal of clinical chemistry533:85-88 2022 |
| PubMed ID: 35738456 |
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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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| 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 : JMD37:e40 2021 |
| PubMed ID: 34020041 |
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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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| Quiñones-Lombraña A1, Li N2, Del Solar V2, Atilla-Gokcumen GE2, Blanco JG, CBR1 rs9024 genotype status impacts the bioactivation of loxoprofen in human liver Biopharm Drug Dispos39:315-318 2018 |
| PubMed ID: 29851133 |
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| 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 |
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| 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 |
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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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| 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 |
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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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| Chen HJ, Tian H, Edenberg HJ, Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C (ADH1C) gene expression Human mutation25:150-5 2005 |
| PubMed ID: 15643610 |
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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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| Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG, Gain-of-function mutation in Nav17 in familial erythromelalgia induces bursting of sensory neurons Brain : a journal of neurology128:1847-54 2005 |
| PubMed ID: 15958509 |
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| Dick DM, Edenberg HJ, Xuei X, Goate A, Hesselbrock V, Schuckit M, Crowe R, Foroud T, No association of the GABAA receptor genes on chromosome 5 with alcoholism in the collaborative study on the genetics of alcoholism sample American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics132:24-8 2005 |
| PubMed ID: 15690551 |
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| Maitland ML, Grimsley C, Kuttab-Boulos H, Witonsky D, Kasza KE, Yang L, Roe BA, Di Rienzo A, Comparative genomics analysis of human sequence variation in the UGT1A gene cluster The pharmacogenomics journal6:52-62 2005 |
| PubMed ID: 16314881 |
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| Ulrich CM, Carlson CS, Sibert J, Poole EM, Yu JH, Wang LH, Sparks R, Potter JD, Bigler J, Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure Human mutation26:394-5 2005 |
| PubMed ID: 16134166 |
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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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| Thompson EE, Kuttab-Boulos H, Witonsky D, Yang L, Roe BA, Di Rienzo A, CYP3A variation and the evolution of salt-sensitivity variants. Am J Hum Genet75(6):1059-69 2004 |
| PubMed ID: 15492926 |
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