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Overview
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Collection
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NHGRI Sample Repository for Human Genetic Research
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| Subcollection |
Human Variation
Pharmacogenetics |
| Sample Description |
INTERNATIONAL HAPMAP PROJECT - HAN CHINESE IN BEIJING, CHINA
INTERNATIONAL HAPMAP PROJECT - JAPANESE IN TOKYO AND HAN CHINESE IN BEIJING (PLATE I)
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 |
| This Sample Is Also in Other Products |
HAPMAPPT02 [INTERNATIONAL HAPMAP PROJECT - JAPANESE IN TOKYO AND HAN CHINESE IN BEIJING (PLATE I)] |
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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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Species
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Homo sapiens
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Common Name
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Human
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Sex
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Female
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Ethnicity
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HAN CHINESE
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Country of Origin
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CHINA
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Relation to Proband
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proband
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Remarks
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| Catalog ID |
GM18564 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00
Academic and not-for-profit pricing: $85.00 |
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| Catalog ID |
NA18564 |
| Product |
DNA |
| Quantity |
50 µg |
| Source |
cell culture |
| Pricing |
Commercial Pricing: $55.00
Academic and not-for-profit pricing: $55.00 |
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
INTERNATIONAL HAPMAP PROJECT - HAN CHINESE IN BEIJING, CHINA
INTERNATIONAL HAPMAP PROJECT - JAPANESE IN TOKYO AND HAN CHINESE IN BEIJING (PLATE I)
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 |
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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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| Gene |
CYP2C19 |
| Chromosomal Location |
10q24.1-q24.3 |
| Allelic Variant 2 |
124020.0003; MEPHENYTOIN 4-HYDROXYLASE POOR METABOLIZER |
| Identified Mutation |
19952G>A; This allelic variant is also known as CYP2C19*3 and CYP2C19m2. De Morais et al. [Molec Pharmacol 46:594-598,1994] identified a G-to-A mutation at nucleotide 636 in exon 4 of the CYP2C19 gene in Japanese poor metabolizers (609535). The mutation resulted in a premature termination codon (trp212 to ter; W212X). |
Phenotypic Data
| Remark |
Han Chinese from Beijing, China; at least three out of four grandparents are Han |
Publications
| Podder M, Ruan J, Tripp W, Chu E, Tebbutt J, Robust SNP genotyping by multiplex PCR and arrayed primer extension BMC medical genomics1:5 2007 |
| PubMed ID: 18237385 |
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| de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD, A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC Nature Genetics38(10):1166-1172 2006 |
| PubMed ID: 16998491 |
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| Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME, Global variation in copy number in the human genome Nature444:444-54 2006 |
| PubMed ID: 17122850 |
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| Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005 |
| PubMed ID: 16255080 |
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| Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005 |
| PubMed ID: 16255080 |
Protocols
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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