GM22551

GM22551 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

52 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

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; myopathy onset at age 45 years; winged scapulae; proximal muscle weakness; shoulder weakness/atrophy; limb weakness/atrophy; pelvic girdle weakness/atrophy; gait abnormalities; difficulty walking up stairs; EMG showing primary muscle disorder; heterozygous for a C>T transition at nucleotide 463 in exon 5 of the VCP gene (463C>T) resulting in the substitution of cysteine for arginine at codon 155 [Arg155Cys(R155C)].

Characterizations

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

601023.0002; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA

Identified Mutation

ARG155CYS; In 2 of 13 families with autosomal dominant IBMPFD (167320), Watts et al. (2004) identified a C-to-T transition at nucleotide 463 of the VCP gene, resulting in an arg155-to-cys substitution (R155C).

Phenotypic Data

Remarks

Publications

Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE, Clinical delineation and localization to chromosome 9p133-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia Molecular genetics and metabolism74:458-75 2001

PubMed ID: 11749051

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

1:5

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

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD