GM19129

GM19129 LCL from B-Lymphocyte

Description:

YORUBA IN IBADAN, NIGERIA

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

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

NIGERIA

Family Member

Relation to Proband

child

Species

Homo sapiens

Common Name

Human

Remarks

Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba

Characterizations

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

Remarks

Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba

Publications

Singh B, Maiti GP, Zhou X, Fazel-Najafabadi M, Bae SC, Sun C, Terao C, Okada Y, Heng Chua K, Kochi Y, Guthridge JM, Zhang H, Weirauch M, James JA, Harley JB, Varshney GK, Looger LL, Nath SK, Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis Arthritis & rheumatology (Hoboken, NJ)73:2303-2313 2020

PubMed ID: 33982894

Chan W, Lee M, Yeo ZX, Ying D, Grimaldi KA, Pickering C, Yang MMS, Sundaram SK, Tzang LCH, Development and validation of next generation sequencing based 35-gene hereditary cancer panel Hereditary cancer in clinical practice18:9 2019

PubMed ID: 32368312

Shi X, Radhakrishnan S, Wen J, Chen JY, Chen J, Lam BA, Mills RE, Stranger BE, Lee C, Setlur SR, Association of CNVs with methylation variation NPJ genomic medicine5:41 2019

PubMed ID: 33062306

Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F, Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus PLoS genetics15:e1008075 2018

PubMed ID: 30917130

Kamps-Hughes N, McUsic A, Kurihara L, Harkins TT, Pal P, Ray C, Ionescu-Zanetti C, ERASE-Seq: Leveraging replicate measurements to enhance ultralow frequency variant detection in NGS data PloS one13:e0195272 2017

PubMed ID: 29630678

Beck CR, Collier P, Macfarlane C, Malig M, Kidd JM, Eichler EE, Badge RM, Moran JV, LINE-1 retrotransposition activity in human genomes Cell141:1159-70 2010

PubMed ID: 20602998

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, and Shendure J. , Targeted capture and massively parallel sequencing of twelve human exomes Nature461(7261):272-276 2009

PubMed ID: 19684571

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

Bovee D, Zhou Y, Haugen E, Wu Z, Hayden HS, Gillett W, Tuzun E, Cooper GM, Sampas N, Phelps K, Levy R, Morrison VA, Sprague J, Jewett D, Buckley D, Subramaniam S, Chang J, Smith DR, Olson MV, Eichler EE, Kaul R, Closing gaps in the human genome with fosmid resources generated from multiple individuals Nature genetics40:96-101 2007

PubMed ID: 18157130

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

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE, Mapping and sequencing of structural variation from eight human genomes Nature453:56-64 2007

PubMed ID: 18451855

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