Repository NIGMS Human Genetic Cell Repository
Subcollection Human Variation
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Ethnicity PYGMY
Relation to Proband proband
Confirmation Diagnosis confirmation is not possible
Species Homo sapiens
Common Name Human
Remarks Line JK1033; Mbuti Pygmy from the Ituri Forest in northeast Zaire; speaks languages of the Niger Kordofanian and Nilosaharan families; adult; YaleStanford Collection
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
 
Remark Line JK1033; Mbuti Pygmy from the Ituri Forest in northeast Zaire; speaks languages of the Niger Kordofanian and Nilosaharan families; adult; YaleStanford Collection
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
 
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
 
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
 
Kelley JL, Swanson WJ, Dietary change and adaptive evolution of enamelin in humans and among primates Genetics178:1595-603 2008
PubMed ID: 18245370
 
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
 
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
 
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
 
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M, Large-scale copy number polymorphism in the human genome. Science305(5683):525-8 2004
PubMed ID: 15273396
 
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
 
Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002
PubMed ID: 12196404
 
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
 
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
 
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
 
Rouquier S, Taviaux S, Trask BJ, Brand-Arpon V, van den Engh G, Demaille J, Giorgi D, Distribution of olfactory receptor genes in the human genome. Nat Genet18:243-50 1998
PubMed ID: 9500546
 
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
 
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
 
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
 
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
 
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
 
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
No data is available
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