GM10844

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

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

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

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

Remarks

Publications

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