GM10840

GM10840 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 1421
INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE II) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
NA CUSTOM SERVICE PLATE 02

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

CEPH
Repository Linkage Families
PIGI Consented Sample

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

UTAH/MORMON

Family Member

Relation to Proband

mother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Mother

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Mother

Publications

Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE, Haplotype-resolved diverse human genomes and integrated analysis of structural variation Science (New York, NY)372: 2020

PubMed ID: 33632895

Chung J, Lee KW, Lee C, Shin SH, Kyung S, Jeon HJ, Kim SY, Cho E, Yoo CE, Son DS, Park WY, Park D, Performance evaluation of commercial library construction kits for PCR-based targeted sequencing using a unique molecular identifier BMC genomics20:216 2018

PubMed ID: 30871467

Clark TA1, Chung JH2, Kennedy M1, Hughes JD1, Chennagiri N1, Lieber DS1, Fendler B1, Young L1, Zhao M1, Coyne M1, Breese V1, Young G1, Donahue A1, Pavlick D1, Tsiros A1, Brennan T1, Zhong S1, Mughal T1, Bailey M1, He J1, Roels S1, Frampton GM1, Spoerke JM3, Gendreau S3, Lackner M3, Schleifman E3, Peters E3, Ross JS1, Ali SM1, Miller VA1, Gregg JP4, Stephens PJ1, Welsh A1, Otto GA1, Lipson D, Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA Journal of Molecular Diagnostics17:30227-30235 2018

PubMed ID: 29936259

Shin HT, Choi YL, Yun JW, Kim NKD, Kim SY, Jeon HJ, Nam JY, Lee C, Ryu D, Kim SC, Park K, Lee E, Bae JS, Son DS, Joung JG, Lee J, Kim ST, Ahn MJ, Lee SH, Ahn JS, Lee WY, Oh BY, Park YH, Lee JE, Lee KH, Kim HC, Kim KM, Im YH, Park K, Park PJ, Park WY, Prevalence and detection of low-allele-fraction variants in clinical cancer samples Nature communications8:1377 2016

PubMed ID: 29123093

Huang RS, Duan S, Kistner EO, Bleibel WK, Delaney SM, Fackenthal DL, Das S, Dolan ME, Genetic variants contributing to daunorubicin-induced cytotoxicity Cancer research68:3161-8 2008

PubMed ID: 18451141

Norman PJ, Cook MA, Carey BS, Carrington CV, Verity DH, Hameed K, Ramdath DD, Chandanayingyong D, Leppert M, Stephens HA, Vaughan RW, SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex Immunogenetics56:225-37 2004

PubMed ID: 15185041

Cheung VG, Conlin LK, Weber TM, Arcaro M, Jen KY, Morley M, Spielman RS, Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet33(3):422-5 2003

PubMed ID: 12567189

Hall MA, Norman PJ, Thiel B, Tiwari H, Peiffer A, Vaughan RW, Prescott S, Leppert M, Schork NJ, Lanchbury JS, Quantitative trait loci on chromosomes 1, 2, 3, 4, 8, 9, 11, 12, and 18 control variation in levels of T and B lymphocyte subpopulations. Am J Hum Genet70(5):1172-82 2002

PubMed ID: 11951176