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GM10837 LCL from B-Lymphocyte

Description:

CEPH/UTAH PEDIGREE 1418
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:

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 1
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Father

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 Father

Publications

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Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q, Human Genome Structural Variation Consortium (HGSVC) Q, Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO, Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders Cell: 2021
PubMed ID: 35525246
 
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
 
Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017
PubMed ID: 29483503
 
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

External Links

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dbSNP dbSNP ID: 444
GEO GEO Accession No: GSM25440
GEO Accession No: GSM25441
GEO Accession No: GSM420605
GEO Accession No: GSM660010
GEO Accession No: GSM660217
GEO Accession No: GSM660421
GEO Accession No: GSM905834
GEO Accession No: GSM905929
GEO Accession No: GSM906024
PharmGKB Pharmgkb ID (requires login): PA126710413

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
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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