GM21850
LCL from B-Lymphocyte
Description:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
VALOSIN-CONTAINING PROTEIN; VCP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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5
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Relation to Proband
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niece
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| 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.
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| Remarks |
Clinically affected; Paget disease onset at 31 years of age; serum creatine phosphokinase is 150 U/L; serum bone-specific alkaline phosphatase is 370 U/L; 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 GM21851 Fibroblast; Affected family members include GM21827, GM21828, GM21829, GM21830, GM21852, GM21853, GM23286; Unaffected family members include GM21726 and GM21727 |
| Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE, Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein Nature genetics36:377-81 2004 |
| PubMed ID: 15034582 |
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| 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 |
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| Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, and Gelber D.
, Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone Genetics in Medicine2(4):232-241 2000 |
| PubMed ID: 11252708 |
| Split Ratio |
1:4 |
| 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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