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GM18943 LCL from B-Lymphocyte

Description:

JAPANESE IN TOKYO, JAPAN

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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Repository NHGRI Sample Repository for Human Genetic Research
Subcollection NHGRI Sample Repository for Human Genetic Research
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Country of Origin JAPAN
Relation to Proband proband
Species Homo sapiens
Common Name Human
Remarks Japanese from the Tokyo metropolitan area in Japan

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 CYP2C19
Chromosomal Location 10q23.33
Allelic Variant 2 124020.0003; MEPHENYTOIN 4-HYDROXYLASE POOR METABOLIZER
Identified Mutation 19952G>A; This allelic variant is also known as CYP2C19*3 and CYP2C19m2. De Morais et al. [Molec Pharmacol 46:594-598,1994] identified a G-to-A mutation at nucleotide 636 in exon 4 of the CYP2C19 gene in Japanese poor metabolizers (609535). The mutation resulted in a premature termination codon (trp212 to ter; W212X).

Phenotypic Data

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Remarks Japanese from the Tokyo metropolitan area in Japan

Publications

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Ueda MT, Inamo J, Miya F, Shimada M, Yamaguchi K, Kochi Y, Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response Cell genomics:100654 2023
PubMed ID: 39288763
 
Davis BH, DeFrank G, Limdi NA, Harada S, Validation of the Spartan RXCYP2C19 genotyping assay utilizing blood samples Clinical and translational science:100654 2019
PubMed ID: 31664775
 
Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T, IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis Scientific reports8:5608 2017
PubMed ID: 29618752
 
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
 
Moreno-Estrada A, Aparicio-Prat E, Sikora M, Engelken J, Ramírez-Soriano A, Calafell F, Bosch E, African signatures of recent positive selection in human FOXI1 BMC evolutionary biology10:267 2010
PubMed ID: 20809947
 
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
 
Nakamoto K, Kidd JR, Jenison RD, Klaassen CD, Wan YJ, Kidd KK, Zhong XB, Genotyping and haplotyping of CYP2C19 functional alleles on thin-film biosensor chips Pharmacogenetics and genomics17:103-14 2007
PubMed ID: 17301690
 
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

External Links

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dbSNP dbSNP ID: 5196
GEO GEO Accession No: GSM136507
GEO Accession No: GSM159621

Culture Protocols

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Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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:
$311.00USD
U.S. Academic/Non-profit/Government:
$149.00USD
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