GM22549
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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2
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Relation to Proband
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daughter
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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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| alkaline phosphatase |
According to the submitter biochemical test results for this subject showed normal enzyme activity. EC Number: 3.1.3.1 |
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| 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).
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| Remarks |
Asymptomatic; donor subject is 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)]; see GM22550 Fibroblast; affected family members include GM22040, GM22551, GM22582, GM22553, GM22554, GM23239, and GM23274. |
| 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 |
| Split Ratio |
1:3 |
| 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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