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GM10844 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 1424
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 16
HUMAN VARIATION PANEL - EUROPEAN WHITE PANEL OF 24
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1

Affected:

No Data

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Pharmacogenetics
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity UTAH/MORMON
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Mother. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597); the number of TA repeats in the UGT1A1 gene are 6 and 6

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
 
UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1 Genotypes were generated using (1) the FDA cleared Invader UGT1A1 Molecular Assay and (2) sequencing.
 
Gene UGT1A1
Chromosomal Location 2q37
Allelic Variant 1 ;
Identified Mutation 6 TA Repeats
 
Gene UGT1A1
Chromosomal Location 2q37
Allelic Variant 2 ;
Identified Mutation 6 TA Repeats

Phenotypic Data

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Remarks Mother. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (96%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597); the number of TA repeats in the UGT1A1 gene are 6 and 6

Publications

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Dias C, Elzein S, Sladek R, Goodyer CG, Sex-specific effects of a microsatellite polymorphism on human growth hormone receptor gene expression Molecular and cellular endocrinology492:110442 2018
PubMed ID: 31063794
 
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
 
Li L, Fridley B, Kalari K, Jenkins G, Batzler A, Safgren S, Hildebrandt M, Ames M, Schaid D, Wang L, Gemcitabine and Cytosine Arabinoside Cytotoxicity: Association with Lymphoblastoid Cell Expression Cancer research68:7050-7058 2008
PubMed ID: 18757419
 
Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, Lohmueller KE, Adams MD, Schmidt S, Sninsky JJ, Sunyaev SR, White TJ, Nielsen R, Clark AG, Bustamante CD, Assessing the evolutionary impact of amino acid mutations in the human genome PLoS genetics4:e1000083 2007
PubMed ID: 18516229
 
Crawford DC, Ritchie MD, Rieder MJ, Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing Pharmacogenomics8:487-96 2007
PubMed ID: 17465713
 
rieder, M.J., Reiner, A.P. and Rettie, A.E., Gamma-glutamyl carboxylase (GGCX) tagSNPs have limited utility for predicting warfarin maintenance dose. J Thrombosis and Haemostasis5(11):2227-2234 2007
PubMed ID: 17764537
 
Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA, Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet14(1):59-69 2005
PubMed ID: 15525656
 
Bustamante CD, Fledel-Alon A, Williamson S, Nielsen R, Hubisz MT, Glanowski S, Tanenbaum DM, White TJ, Sninsky JJ, Hernandez RD, Civello D, Adams MD, Cargill M, Clark AG, Natural selection on protein-coding genes in the human genome Nature437:1153-7 2005
PubMed ID: 16237444
 
Carlson CS, Aldred SF, Lee PK, Tracy RP, Schwartz SM, Rieder M, Liu K, Williams OD, Iribarren C, Lewis EC, Fornage M, Boerwinkle E, Gross M, Jaquish C, Nickerson DA, Myers RM, Siscovick DS, Reiner AP, Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels. Am J Hum Genet77(1):64-77 2005
PubMed ID: 15897982
 
Carlson CS, Thomas DJ, Eberle MA, Swanson JE, Livingston RJ, Rieder MJ, Nickerson DA, Genomic regions exhibiting positive selection identified from dense genotype data Genome research15:1553-65 2005
PubMed ID: 16251465
 
Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR, Whole-genome patterns of common DNA variation in three human populations. Science307(5712):1072-9 2005
PubMed ID: 15718463
 
Meza MM, Yu L, Rodriguez YY, Guild M, Thompson D, Gandolfi AJ, Klimecki WT, Developmentally restricted genetic determinants of human arsenic metabolism: association between urinary methylated arsenic and CYT19 polymorphisms in children Environmental health perspectives113:775-81 2005
PubMed ID: 15929903
 
Ramsey CD, Lazarus R, Camargo CA, Weiss ST, Celedón JC, Polymorphisms in the interleukin 17F gene (IL17F) and asthma Genes and immunity6:236-41 2005
PubMed ID: 15703761
 
Akey JM, Eberle MA, Rieder MJ, Carlson CS, Shriver MD, Nickerson DA, Kruglyak L, Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol2(10):e286 2004
PubMed ID: 15361935
 
Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA, Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet74(1):106-20 2004
PubMed ID: 14681826
 
Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M, Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet36(7):700-6 2004
PubMed ID: 15184900
 
Crawford DC, Carlson CS, Rieder MJ, Carrington DP, Yi Q, Smith JD, Eberle MA, Kruglyak L, Nickerson DA, Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet74(4):610-22 2004
PubMed ID: 15015130
 
Ding K, Zhou K, Zhang J, Knight J, Zhang X, Shen Y, The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection Molecular biology and evolution22:148-59 2004
PubMed ID: 15371531
 
Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004
PubMed ID: 15185041
 
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
 
Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, Ozonoff A, Richter B, Weiss ST, The IL12B gene is associated with asthma. Am J Hum Genet75(4):709-15 2004
PubMed ID: 15322986
 
Tantisira K, Klimecki WT, Lazarus R, Palmer LJ, Raby BA, Kwiatkowski DJ, Silverman E, Vercelli D, Martinez FD, Weiss ST, Toll-like receptor 6 gene (TLR6): single-nucleotide polymorphism frequencies and preliminary association with the diagnosis of asthma. Genes Immun5(5):343-6 2004
PubMed ID: 15266299
 
Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA, Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet33(4):518-21 2003
PubMed ID: 12652300
 
Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS, Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet33(3):422-5 2003
PubMed ID: 12567189
 
Yu L, Kalla K, Guthrie E, Vidrine A, Klimecki WT, Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans Environmental health perspectives111:1421-7 2003
PubMed ID: 12928150
 
Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002
PubMed ID: 11951176

External Links

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dbSNP dbSNP ID: 499
Gene Cards UGT1A1
Gene Ontology GO:0005792 microsome
GO:0006789 bilirubin conjugation
GO:0007586 digestion
GO:0008152 metabolism
GO:0008210 estrogen metabolism
GO:0015020 glucuronosyltransferase activity
GO:0016021 integral to membrane
GEO GEO Accession No: GSM25450
GEO Accession No: GSM25451
GEO Accession No: GSM316456
GEO Accession No: GSM316457
GEO Accession No: GSM316458
GEO Accession No: GSM420616
GEO Accession No: GSM420617
GEO Accession No: GSM905839
GEO Accession No: GSM905934
GEO Accession No: GSM906029
NCBI Gene Gene ID:54658
NCBI GTR 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
OMIM 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1
PharmGKB Pharmgkb ID (requires login): PA126710416

Culture Protocols

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Split Ratio 1:2
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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