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GM22084 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:

59 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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
Family Member 2
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; myopathy with onset at age 45 years; serum creatine phosphokinase is 145 U/L; serum bone-specific alkaline phosphatase is 93 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 GM22085 Fibroblast

Characterizations

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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

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Remarks Clinically affected; myopathy with onset at age 45 years; serum creatine phosphokinase is 145 U/L; serum bone-specific alkaline phosphatase is 93 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 GM22085 Fibroblast

Publications

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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

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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

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Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
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 -
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