GM22239

GM22239 LCL from B-Lymphocyte

Description:

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
VALOSIN-CONTAINING PROTEIN; VCP

Affected:

Unknown

Sex:

Female

Age:

38 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Family History

Relation to Proband

cousin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

At risk; currently asymptomatic; serum creatine phosphokinase is 71 U/L; serum bone-specific alkaline phosphatase is 83 U/L; donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 [Arg155His(R155H)]; see GM22240 Fibroblast

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

alkaline phosphatase

According to the submitter biochemical test results for this subject showed normal enzyme activity. EC Number: 3.1.3.1

Gene

VCP

Chromosomal Location

9p13-p12

Allelic Variant 1

601023.0001; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA

Identified Mutation

ARG155HIS; In 7 of 13 families with autosomal dominant IBMPFD (167320), Watts et al. (Nature Genet 36:377-381, 2004) identified a G-to-A transition at nucleotide 464 of the VCP gene, resulting in an arg155-to-his substitution (R155H). This mutation appears to have arisen independently on several haplotype backgrounds.

Phenotypic Data

Remarks

Publications

Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, and Watts GDJ., Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia Am J Med Genet Part A146A:745-757 2008

PubMed ID: 18260132

External Links

Gene Cards

VCP

NCBI Gene

Gene ID:7415

NCBI GTR

167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1

601023 VALOSIN-CONTAINING PROTEIN; VCP

OMIM

167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1

601023 VALOSIN-CONTAINING PROTEIN; VCP

Omim Description

LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE

PAGETOID AMYOTROPHIC LATERAL SCLEROSIS

PAGETOID NEUROSKELETAL SYNDROME

Culture Protocols

Split Ratio

1:4

Temperature

37 C

Percent CO2

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD