GM22661

GM22661 Fibroblast from Skin, Thigh

Description:

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

Affected:

Unknown

Sex:

Female

Age:

37 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Biopsy Source

Thigh

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Thigh

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; depression; serum creatine phosphokinase is 56 U/L; serum bone-specific alkaline phosphatase is 63 U/L; donor subject is heterozygous for a T>G transversion at nucleotide 593 in exon 6 of the VCP gene [593T>G] resulting in a substitution of tryptophan for leucine at codon 198 [Leu198Trp (L198W)]; see GM22660 Lymphoid

Characterizations

PDL at Freeze

4.02

Passage Frozen

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

L198W; INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA

Identified Mutation

LEU198TRP

Phenotypic Data

Remarks

Publications

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, and Kimonis VE. , Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia Clin Genet72:420-426 2007

PubMed ID: 17935506

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

Cumulative PDL at Freeze

4.1

Passage Frozen

Split Ratio

1:4

Temperature

37 C

Percent CO2

Percent O2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD