Description:
JAPANESE IN TOKYO, JAPAN
|
Repository
|
NHGRI Sample Repository for Human Genetic Research
|
| Subcollection |
NHGRI Sample Repository for Human Genetic Research |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Country of Origin
|
JAPAN
|
|
Relation to Proband
|
proband
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Japanese from the Tokyo metropolitan area in Japan |
| Barber TM, Bhatti AA, Elder PJ, Ball SP, Calvez R, Ramsden DB, Cuthbertson DJ, Pfeiffer AF, Burnett D, Weickert MO, AMY1 gene copy number correlates with glucose absorption and visceral fat volume, but not with insulin resistance The Journal of clinical endocrinology and metabolism: 2020 |
| PubMed ID: 32697825 |
| |
| Grammatikopoulou MG, Gkiouras K, Markaki AG, Gkouskou KK, Aivaliotis M, Stylianou K, Bogdanos DP, AMY1 diploid copy number among end-stage renal disease patients Hormones (Athens, Greece): 2019 |
| PubMed ID: 32405930 |
| |
| Liu Y, Smith CE, Parnell LD, Lee YC, An P, Straka RJ, Tiwari HK, Wood AC, Kabagambe EK, Hidalgo B, Hopkins PN, Province MA, Arnett DK, Tucker KL, Ordovas JM, Lai CQ, Salivary AMY1 Copy Number Variation Modifies Age-Related Type 2 Diabetes Risk Clinical chemistry66:718-726 2019 |
| PubMed ID: 32337541 |
| |
| Fujiki R1, Ikeda M2, Yoshida A3, Akiko M4, Yao Y5, Nishimura M6, Matsushita K6, Ichikawa T6, Tanaka T7, Morisaki H8, Morisaki T9, Ohara O10., Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing. Journal of Molecular Diagnostics17:30554-30558 2018 |
| PubMed ID: 29953964 |
| |
| León-Mimila P, Villamil-Ramírez H, López-Contreras BE, Morán-Ramos S, Macias-Kauffer LR, Acuña-Alonzo V, Del Río-Navarro BE, Salmerón J, Velazquez-Cruz R, Villarreal-Molina T, Aguilar-Salinas CA, Canizales-Quinteros S, Low Salivary Amylase Gene ( Nutrients10:30554-30558 2018 |
| PubMed ID: 30388780 |
| |
| Poole AC, Goodrich JK, Youngblut ND, Luque GG, Ruaud A, Sutter JL, Waters JL, Shi Q, El-Hadidi M, Johnson LM, Bar HY, Huson DH, Booth JG, Ley RE, Human Salivary Amylase Gene Copy Number Impacts Oral and Gut Microbiomes Cell host & microbe25:553-564.e7 2018 |
| PubMed ID: 30974084 |
| |
| Goettsch C, Babelova A, Trummer O, Erben RG, Rauner M, Rammelt S, Weissmann N, Weinberger V, Benkhoff S, Kampschulte M, Obermayer-Pietsch B, Hofbauer LC, Brandes RP, Schröder K, NADPH oxidase 4 limits bone mass by promoting osteoclastogenesis The Journal of clinical investigation123:4731-8 2012 |
| PubMed ID: 24216508 |
| |
| Liang WS, Craig DW, Carpten J, Borad MJ, Demeure MJ, Weiss GJ, Izatt T, Sinari S, Christoforides A, Aldrich J, Kurdoglu A, Barrett M, Phillips L, Benson H, Tembe W, Braggio E, Kiefer JA, Legendre C, Posner R, Hostetter GH, Baker A, Egan JB, Han H, Lake D, Stites EC, Ramanathan RK, Fonseca R, Stewart AK, Von Hoff D, Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing PloS one7:e43192 2012 |
| PubMed ID: 23071490 |
| |
| Rhein C, Tripal P, Seebahn A, Konrad A, Kramer M, Nagel C, Kemper J, Bode J, Mühle C, Gulbins E, Reichel M, Becker CM, Kornhuber J, Functional implications of novel human acid sphingomyelinase splice variants PloS one7:e35467 2011 |
| PubMed ID: 22558155 |
| |
| Kramer M, Boeck J, Reichenbach D, Kaether C, Schreiber S, Platzer M, Rosenstiel P, Huse K, NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner BMC research notes3:224 2010 |
| PubMed ID: 20698950 |
| |
| 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 |
| |
| Kramer M, Backhaus O, Rosenstiel P, Horn D, Klopocki E, Birkenmeier G, Schreiber S, Platzer M, Hampe J, Huse K, Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing Gene455:1-7 2009 |
| PubMed ID: 20138207 |
| |
| Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C, Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation Genetics183:1065-77 2009 |
| PubMed ID: 19737746 |
| |
| Riethman H, Human subtelomeric copy number variations Cytogenetic and genome research123:244-52 2008 |
| PubMed ID: 19287161 |
| |
| Podder M, Ruan J, Tripp W, Chu E, Tebbutt J, Robust SNP genotyping by multiplex PCR and arrayed primer extension BMC medical genomics1:5 2007 |
| PubMed ID: 18237385 |
| |
| de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD, A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC Nature Genetics38(10):1166-1172 2006 |
| PubMed ID: 16998491 |
| |
| Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME, Global variation in copy number in the human genome Nature444:444-54 2006 |
| PubMed ID: 17122850 |
| |
| Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005 |
| PubMed ID: 16255080 |
| |
| Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005 |
| PubMed ID: 29977288 |
|
|