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search submit
NA19101 DNA from LCL

Description:

YORUBA IN IBADAN, NIGERIA

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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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 NIGERIA
Family Member 3
Relation to Proband father
Species Homo sapiens
Common Name Human
Remarks Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba; subsequent to the submission of this sample and the establishment of the cell line, a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel, as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. [PMID: 16255080])

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 CYP3A5
Chromosomal Location 7q22.1
Allelic Variant 1 K208K; DECREASE IN CYP3A5 PROTEIN AND ACTIVITY
Identified Mutation 267871G>A

Phenotypic Data

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Remarks Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba; subsequent to the submission of this sample and the establishment of the cell line, a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel, as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. [PMID: 16255080])

Publications

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Triqueneaux G, Burny C, Symmons O, Janczarski S, Gruffat H, Yvert G, Cell-to-cell expression dispersion of B-cell surface proteins is linked to genetic variants in humans Communications biology3:346 2019
PubMed ID: 32620900
 
Zhang Z, Luo K, Zou Z, Qiu M, Tian J, Sieh L, Shi H, Zou Y, Wang G, Morrison J, Zhu AC, Qiao M, Li Z, Stephens M, He X, He C, Genetic analyses support the contribution of mRNA N Nature genetics3:346 2019
PubMed ID: 32601472
 
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
 
Gallagher CJ, Keene KL, Mychaleckyj JC, Langefeld CD, Hirschhorn JN, Henderson BE, Gordon CJ, Freedman BI, Rich SS, Bowden DW, Sale MM, Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations Diabetes56:675-84 2007
PubMed ID: 17327435
 
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: 5273
GEO GEO Accession No: GSM1311011
GEO Accession No: GSM1311012
GEO Accession No: GSM159690
GEO Accession No: GSM188717
GEO Accession No: GSM188899
GEO Accession No: GSM245526
GEO Accession No: GSM778697
GEO Accession No: GSM848684
Pricing
International/Commercial/For-profit:
$225.00USD
U.S. Academic/Non-profit/Government:
$96.00USD
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