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NA11321 DNA from LCL

Description:

CHINESE POPULATION

Affected:

No

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Pharmacogenetics
Alternate IDs GM17016 [CHINESE POPULATION]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Ethnicity CHINESE
Relation to Proband proband
Confirmation Diagnosis confirmation is not possible
Species Homo sapiens
Common Name Human
Remarks Line CH1; Southern Chinese collected in the San Francisco area; adult; Yale Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

Characterizations

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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
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.
 

Phenotypic Data

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Remarks Line CH1; Southern Chinese collected in the San Francisco area; adult; Yale Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL lambda (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597)

Publications

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Hahn Y, Jeong S, Lee B, Inactivation of MOXD2 and S100A15A by Exon Deletion during Human Evolution Molecular biology and evolution24:2203-12 2007
PubMed ID: 17642472
 
Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005
PubMed ID: 15914676
 
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
 
Boissinot S, Entezam A, Young L, Munson PJ, Furano AV, The insertional history of an active family of l1 retrotransposons in humans. Genome Res14(7):1221-31 2004
PubMed ID: 15197167
 
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004
PubMed ID: 14583597
 
Salem AH, Myers JS, Otieno AC, Watkins WS, Jorde LB, Batzer MA, LINE-1 preTa elements in the human genome. J Mol Biol326(4):1127-46 2003
PubMed ID: 12589758
 
Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002
PubMed ID: 12196404
 
Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, Cooper R, Lipshutz R, Chakravarti A, Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet22(3):239-47 1999
PubMed ID: 10391210
 
Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR, A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum Genet103:211-27 1998
PubMed ID: 9760208
 
Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL, Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci U S A88:839-43 1991
PubMed ID: 1992475

External Links

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dbSNP dbSNP ID: 1659
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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