GM10469
LCL from B-Lymphocyte
Description:
BIAKA PYGMY POPULATION
SNP500 PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Human Variation |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Ethnicity
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PYGMY
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Relation to Proband
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proband
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Confirmation
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Diagnosis confirmation is not possible
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| Remarks |
Line JK736; Biaka Pygmy from the village of Bagandu in the southwest corner of the Central African Republic; Aka speaking; likely to be somewhat admixed with neighboring non-Pygmy groups; adult; Yale-Stanford Collection. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (97%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597). |
| 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 |
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| 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 |
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| 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 |
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| Long JC, Li J, Healy ME, Human DNA sequences: more variation and less race American journal of physical anthropology139:23-34 2009 |
| PubMed ID: 19226648 |
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| 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 America139:23-34 2008 |
| PubMed ID: 18523009 |
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| Kim HL, Satta Y, Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans Genetics178:1505-15 2008 |
| PubMed ID: 18245333 |
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| Lo WS, Xu Z, Yu Z, Pun FW, Ng SK, Chen J, Tong KL, Zhao C, Xu X, Tsang SY, Harano M, Stöber G, Nimgaonkar VL, Xue H, Positive selection within the Schizophrenia-associated GABA(A) receptor beta(2) gene PloS one2:e462 2007 |
| PubMed ID: 17520021 |
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| 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 |
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| 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 |
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| 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 |
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| Belshaw R, Dawson AL, Woolven-Allen J, Redding J, Burt A, Tristem M, Genomewide screening reveals high levels of insertional polymorphism in the human endogenous retrovirus family HERV-K(HML2): implications for present-day activity Journal of virology79:12507-14 2005 |
| PubMed ID: 16160178 |
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| 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 |
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| 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 |
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| 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 |
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| Gilad Y, Lancet D., Population differences in the human functional olfactory repertoire. Mol Biol Evol20(3):307-14 2003 |
| PubMed ID: 12644552 |
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| Salem AH, Myers JS, Otieno AC, Watkins WS, Jorde LB, Batzer MA, LINE-1 preTa elements in the human genome. J Mol Biol326(4):1127-46 2003 |
| PubMed ID: 12589758 |
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| Menashe I, Man O, Lancet D, Gilad Y, Population differences in haplotype structure within a human olfactory receptor gene cluster. Hum Mol Genet11(12):1381-90 2002 |
| PubMed ID: 12023980 |
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| Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde LB, Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms. Am J Hum Genet68(3):738-52 2001 |
| PubMed ID: 11179020 |
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| 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 |
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| Anagnostopoulos T, Green PM, Rowley G, Lewis CM, Giannelli F, DNA variation in a 5-Mb region of the X chromosome and estimates of
sex-specific/type-specific mutation rates. Am J Hum Genet64(2):508-17 1999 |
| PubMed ID: 9973287 |
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| 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 |
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| 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 |
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| 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 |
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| Zhao TM, Whitaker SE, Robinson MA, A genetically determined insertion/deletion related polymorphism in human T cell receptor beta chain (TCRB) includes functional variable gene segments. J Exp Med180:1405-14 1994 |
| PubMed ID: 7931073 |
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| Bowcock AM, Kidd JR, Mountain JL, Hebert JM, Carotenuto L, Kidd KK, Cavalli-Sforza LL, Drift, admixture, and selection in human evolution: a study with DNA polymorphisms. Proc Natl Acad Sci U S A88:839-43 1991 |
| PubMed ID: 1992475 |
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| Bowcock AM, Bucci C, Hebert JM, Kidd JR, Kidd KK, Friedlaender JS, Cavalli-Sforza LL, Study of 47 DNA markers in five populations from four continents. Gene Geogr1:47-64 1987 |
| PubMed ID: 2908691 |
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| Cavalli-Sforza LL, Kidd JR, Kidd KK, Bucci C, Bowcock AM, Hewlett BS, Freidlaender JS, DNA markers and genetic variation in the human species. Cold Spring Harb Symp Quant Biol51:411-417 1986 |
| PubMed ID: 2884067 |
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| Zhukov VG, Navashin SM, Changes in the ultrastructure of Staph. aureus cells under the action of certain antibiotics. Antibiotiki9:813-7 1975 |
| PubMed ID: 1180533 |
| Split Ratio |
1:3 |
| 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 |
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