Description:
CHINESE POPULATION
HUMAN VARIATION PANEL - CHINESE (VERSION 2)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation
GeT-RM Samples
Pharmacogenetics |
| 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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Race
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Chinese
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Ethnicity
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CHINESE
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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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| Remarks |
Chinese; descendant of individuals from the city of Shanghai in mainland China |
| 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 |
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| 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 |
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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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| 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 |
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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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| Awomoyi A, Sirugo G, Newport MJ, Tishkoff S, Global distribution of a novel trinucleotide microsatellite polymorphism (ATA)n in intron 8 of the SLC11A1 gene and susceptibility to pulmonary tuberculosis International journal of immunogenetics33:11-5 2006 |
| PubMed ID: 16426236 |
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| Evans PD, Mekel-Bobrov N, Vallender EJ, Hudson RR, Lahn BT, Evidence that the adaptive allele of the brain size gene microcephalin introgressed into Homo sapiens from an archaic Homo lineage PROC NATL ACAD SCI USA103(48):18178-83 2006 |
| PubMed ID: 17090677 |
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| Evans PD, Gilbert SL, Mekel-Bobrov N, Vallender EJ, Anderson JR, Vaez-Azizi LM, Tishkoff SA, Hudson RR, Lahn BT, Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science309(5741):1717-20 2005 |
| PubMed ID: 16151009 |
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| 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 |
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| Liu W, Innocenti F, Wu MH, Desai AA, Dolan ME, Cook EH Jr, Ratain MJ, A functional common polymorphism in a Sp1 recognition site of the epidermal growth factor receptor gene promoter. Cancer Res65(1):46-53 2005 |
| PubMed ID: 15665278 |
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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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| Mekel-Bobrov N, Gilbert SL, Evans PD, Vallender EJ, Anderson JR, Hudson RR, Tishkoff SA, Lahn BT, Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens. Science309(5741):1720-2 2005 |
| PubMed ID: 16151010 |
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| Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE, Fine-scale structural variation of the human genome Nature genetics37:727-32 2005 |
| PubMed ID: 15895083 |
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| Wang J, Song L, Gonder MK, Azrak S, Ray DA, Batzer MA, Tishkoff SA, Liang P, Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms Gene365:11-20 2005 |
| PubMed ID: 16376498 |
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| 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 |
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| Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT, Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet13(11):1139-45 2004 |
| PubMed ID: 15056607 |
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| Evans PD, Anderson JR, Vallender EJ, Gilbert SL, Malcom CM, Dorus S, Lahn BT, Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum Mol Genet13(5):489-94 2004 |
| PubMed ID: 14722158 |
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