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GM11932 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 1424
INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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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 13
Relation to Proband maternal grandfather
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Maternal Grandfather. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

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
 

Phenotypic Data

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Remarks Maternal Grandfather. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597).

Publications

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Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW, Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics Genetics in medicine : official journal of the American College of Medical Genetics23:1225-1233 2020
PubMed ID: 33772221
 
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)372:1225-1233 2020
PubMed ID: 33632895
 
Ali AT, Boehme L, Carbajosa G, Seitan VC, Small KS, Hodgkinson A, Nuclear genetic regulation of the human mitochondrial transcriptome eLife8:1225-1233 2018
PubMed ID: 30775970
 
Garieri M1,2,3, Delaneau O1,2,3, Santoni F1,4, Fish RJ1, Mull D1, Carninci P5, Dermitzakis ET1,2,3, Antonarakis SE1,2,4, Fort A6., The effect of genetic variation on promoter usage and enhancer activity. Nat Commun8(1):1358 2017
PubMed ID: 29116076
 
Ferraren DO, Liu C, Badner JA, Corona W, Rezvani A, Monje VD, Gershon ES, Bonner TI, Detera-Wadleigh SD, Linkage disequilibrium analysis in the LOC93081-KDELC1-BIVM region on 13q in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet133(1):12-7 2005
PubMed ID: 15635705
 
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
 
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004
PubMed ID: 14583597
 
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

External Links

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dbSNP dbSNP ID: 510
GEO GEO Accession No: GSM25512
GEO Accession No: GSM25513
GEO Accession No: GSM420711
GEO Accession No: GSM420712
GEO Accession No: GSM906141
GEO Accession No: GSM906142
PharmGKB Pharmgkb ID (requires login): PA126710431

Culture Protocols

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Split Ratio 1:3
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:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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