GM22369
Fibroblast from Skin, Thigh
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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Thigh
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Thigh
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Race
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White
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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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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| PDL at Freeze |
6.22 |
| Passage Frozen |
7 |
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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 increased enzyme activity. EC Number: 3.1.3.1 |
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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; serum creatine phosphokinase is 266 U/L; serum bone-specific alkaline phosphatase is 124 U/L; radiographs showed parietal and occipital irregular thickening of the skull, picture framing an enlargement of the T12 and L1 vertebral bodies, upper end plate sclerosis of the L2 vertebral body, and proximal thickening with increased coarsening of the right humerous; 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 GM22368 Lymphoid |
| 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 |
| Cumulative PDL at Freeze |
9.85 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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