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NA17082 DNA from Fibroblast

Description:

HUMAN VARIATION PANEL - SOUTHEAST ASIANS (EXCLUDING JAPANESE AND CHINESE)

Affected:

Yes

Sex:

Male

Age:

23 FW (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Alternate IDs GM03037 [HUMAN VARIATION PANEL - SOUTHEAST ASIANS (EXCLUDING JAPANESE AND CHINESE)]
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Species Homo sapiens
Common Name Human

Characterizations

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PDL at Freeze 7.37
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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No data is available

Publications

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Mun S, Kim S, Lee W, Kang K, Meyer TJ, Han BG, Han K, Kim HS, A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome Experimental & molecular medicine53:615-630 2019
PubMed ID: 33833373
 
Lambert CA, Connelly CF, Madeoy J, Qiu R, Olson MV, Akey JM, Highly punctuated patterns of population structure on the X chromosome and implications for African evolutionary history American journal of human genetics86:34-44 2009
PubMed ID: 20085712
 
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 America86:34-44 2008
PubMed ID: 18523009
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 1728
PharmGKB Pharmgkb ID (requires login): PA126721888
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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