GM10492
LCL from B-Lymphocyte
Description:
MBUTI 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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ISCN
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46,XY
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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 and by Chromosome Analysis |
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| Remarks |
Line JK1029; Mbuti Pygmy from the Ituri Forest in northeast Zaire; speaks languages of the Niger Kordofanian & Nilosaharan families; adult; YaleStanford Collection |
| Kaplan MH, Kaminski M, Estes JM, Gitlin SD, Zahn J, Elder JT, Tejasvi T, Gensterblum E, Sawalha AH, McGowan JP, Dosik MH, Direskeneli H, Direskeneli GS, Adebamowo SN, Adebamowo CA, Sajadi M, Contreras-Galindo R, Structural variation of centromeric endogenous retroviruses in human populations and their impact on cutaneous T-cell lymphoma, Sézary syndrome, and HIV infection BMC medical genomics12:58 2018 |
| PubMed ID: 31046767 |
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| 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 |
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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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| 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 America86:34-44 2008 |
| PubMed ID: 18523009 |
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| Kelley JL, Swanson WJ, Dietary change and adaptive evolution of enamelin in humans and among primates Genetics178:1595-603 2008 |
| PubMed ID: 18245370 |
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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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| Hahn Y, Jeong S, Lee B, Inactivation of MOXD2 and S100A15A by Exon Deletion during Human Evolution Molecular biology and evolution24:2203-12 2007 |
| PubMed ID: 17642472 |
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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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| 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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| Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA, Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet36(9):1008-13 2004 |
| PubMed ID: 15322546 |
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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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| 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 |
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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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| Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002 |
| PubMed ID: 12196404 |
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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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| 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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| 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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| Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST, Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Hum Mol Genet7:1935-46 1998 |
| PubMed ID: 9811938 |
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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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