GM13248

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

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

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

Remarks

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

Publications

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

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

Split Ratio

1:5

Temperature

37 C

Percent CO2

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