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GM11522 LCL from B-Lymphocyte

Description:

DRUZE POPULATION
SNP500 PANEL

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Pharmacogenetics
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Ethnicity DRUZE
Relation to Proband proband
Confirmation Diagnosis confirmation is not possible
Species Homo sapiens
Common Name Human
Remarks Line JK1333; adult from the Galilee; Yale-Stanford Collection

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 JK1333; adult from the Galilee; Yale-Stanford Collection

Publications

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Petrovick MS, Boettcher T, Fremont-Smith P, Peragallo C, Ricke DO, Watkins J, Schwoebel E, Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies Forensic science international Genetics46:102234 2019
PubMed ID: 32018060
 
Clark TA1, Chung JH2, Kennedy M1, Hughes JD1, Chennagiri N1, Lieber DS1, Fendler B1, Young L1, Zhao M1, Coyne M1, Breese V1, Young G1, Donahue A1, Pavlick D1, Tsiros A1, Brennan T1, Zhong S1, Mughal T1, Bailey M1, He J1, Roels S1, Frampton GM1, Spoerke JM3, Gendreau S3, Lackner M3, Schleifman E3, Peters E3, Ross JS1, Ali SM1, Miller VA1, Gregg JP4, Stephens PJ1, Welsh A1, Otto GA1, Lipson D, Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA Journal of Molecular Diagnostics17:30227-30235 2018
PubMed ID: 29936259
 
Fairbanks DJ, Fairbanks AD, Ogden TH, Parker GJ, Maughan PJ, NANOGP8: evolution of a human-specific retro-oncogene G3 (Bethesda, Md)2:1447-57 2012
PubMed ID: 23173096
 
Londin ER, Keller MA, Maista C, Smith G, Mamounas LA, Zhang R, Madore SJ, Gwinn K, Corriveau RA. , CoAIMs: A Cost-Effective Panel of Ancestry Informative Markers for Determining Continental Origins. Plos One5(10):e13443 2010
PubMed ID: 20976178
 
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 America5(10):e13443 2008
PubMed ID: 18523009
 
Bergen AW, Baccarelli A, McDaniel TK, Kuhn K, Pfeiffer R, Kakol J, Bender P, Jacobs K, Packer B, Chanock SJ, Yeager M, Cis sequence effects on gene expression BMC genomics8:296 2007
PubMed ID: 17727713
 
Wong KK, Deleeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, Macaulay C, Ng RT, Brown CJ, Eichler EE, Lam WL, A comprehensive analysis of common copy-number variations in the human genome American journal of human genetics80:91-104 2006
PubMed ID: 17160897
 
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
 
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
 
Hughes JF, Coffin JM, Human endogenous retrovirus K solo-LTR formation and insertional polymorphisms: implications for human and viral evolution. Proc Natl Acad Sci U S A101(6):1668-72 2004
PubMed ID: 14757818
 
Haque KA, Pfeiffer RM, Beerman MB, Struewing JP, Chanock SJ, Bergen AW, Performance of high-throughput DNA quantification methods. BMC Biotechnol3(1):20 2003
PubMed ID: 14583097
 
Ovchinnikov I, Rubin A, Swergold GD, Tracing the LINEs of human evolution. Proc Natl Acad Sci U S A99(16):10522-7 2002
PubMed ID: 12138175
 
Fritsche E, Baek SJ, King LM, Zeldin DC, Eling TE, Bell DA, Functional characterization of cyclooxygenase-2 polymorphisms. J Pharmacol Exp Ther299(2):468-76 2001
PubMed ID: 11602656
 
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
 
Trask BJ, Friedman C, Martin-Gallardo A, Rowen L, Akinbami C, Blankenship J, Collins C, Giorgi D, Iadonato S, Johnson F, Kuo WL, Massa H, Morrish T, Naylor S, Nguyen OT, Rouquier S, Smith T, Wong DJ, Youngblom J, van den Engh G, Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes. Hum Mol Genet7:13-26 1998
PubMed ID: 9384599
 
Mefford H, van den Engh G, Friedman C, Trask BJ, Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping. Hum Genet100:138-44 1997
PubMed ID: 9225983

External Links

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dbSNP dbSNP ID: 11600
GEO GEO Accession No: GSM123898
GEO Accession No: GSM124448
GEO Accession No: GSM207768

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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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