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GM16689 LCL from B-Lymphocyte

Description:

CHINESE POPULATION
HUMAN VARIATION PANEL - CHINESE (VERSION 2)

Affected:

No

Sex:

Male

Age:

74 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
GeT-RM Samples
Pharmacogenetics
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Chinese
Ethnicity CHINESE
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Chinese; descendant of individuals from the city of Shanghai in mainland China

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
 
Pharmacogenomics Panel For pharmacogenetic variants please click here: GeT-RM PGx Search
 

Phenotypic Data

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Remarks Chinese; descendant of individuals from the city of Shanghai in mainland China

Publications

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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 : JMD: 2021
PubMed ID: 34020041
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 1726

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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