GM13252

GM13252 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

40 YR (At Sampling)

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

SSCP analysis of genomic DNA from this patient showed a 8-nt insertion mutation at nt 714 of the VHL gene

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.501_502insTTGTCCGT (p.Ser168fs); This variant is also known as "8-nt insertion (714)"

Phenotypic Data

Remarks

SSCP analysis of genomic DNA from this patient showed a 8-nt insertion mutation at nt 714 of the VHL gene

Publications

Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al, Identification of the von Hippel-Lindau disease tumor suppressor gene [see comments] Science260:1317-20 1993

PubMed ID: 8493574

Goodman, Lindau's disease - in the Hudson Valley. J Neurosurg21:97 (1964):1317-20 1964

PubMed ID: 8493574

External Links

dbSNP

dbSNP ID: 11748

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

1:3

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD