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GM13248 LCL from B-Lymphocyte

Description:

VON HIPPEL-LINDAU SYNDROME; VHL
VON HIPPEL-LINDAU TUMOR SUPPRESSOR; VHL

Affected:

Yes

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 Heritable Diseases
Hereditary Cancers
Class Ophthalmologic Disorders
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Cerebellar hemangioblastoma; 2 affected children; single nucleoside deletion in VHL gene - deletion 661delA

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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
Gene VHL
Chromosomal Location 3p26-p25
Allelic Variant 1 ; VON HIPPEL-LINDAU SYNDROME
Identified Mutation c.449del (p.Asn150fs); This variant is also known as 661delA.

Phenotypic Data

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Remarks Cerebellar hemangioblastoma; 2 affected children; single nucleoside deletion in VHL gene - deletion 661delA

Publications

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Glenn GM, Linehan WM, Hosoe S, Latif F, Yao M, Choyke P, Gorin MB, Chew E, Olfield E, Manolatos C, et al, Screening for von Hippel-Lindau disease by DNA polymorphism analysis. JAMA267:1226-31 1992
PubMed ID: 1347089

External Links

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dbSNP dbSNP ID: 11746
Gene Cards VHL
Gene Ontology GO:0000122 negative regulation of transcription from Pol II promoter
GO:0000902 cellular morphogenesis
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0006508 proteolysis and peptidolysis
GO:0006916 anti-apoptosis
GO:0006950 response to stress
GO:0008134 transcription factor binding
GO:0008285 negative regulation of cell proliferation
GO:0016567 protein ubiquitination
GO:0045597 positive regulation of cell differentiation
GO:0045786 negative regulation of cell cycle
GO:0050821 protein stabilization
NCBI Gene Gene ID:7428
NCBI GTR 193300 VON HIPPEL-LINDAU SYNDROME; VHLS
608537 VON HIPPEL-LINDAU TUMOR SUPPRESSOR; VHL
OMIM 193300 VON HIPPEL-LINDAU SYNDROME; VHLS
608537 VON HIPPEL-LINDAU TUMOR SUPPRESSOR; VHL
Omim Description VON HIPPEL-LINDAU SYNDROME; VHL

Culture Protocols

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Split Ratio 1:5
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
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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