GM20926
Fibroblast from Skin, Unspecified
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 |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Unspecified
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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, Unspecified
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Race
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White
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Ethnicity
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LITHUANIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 |
4.79 |
| Passage Frozen |
13 |
| |
| 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 |
| Remarks |
Clinically affected; right arm weakness; inability to raise arms above shoulder level; pain in lower neck, shoulder blades and right lower back; marked scapular winging; weakness of limb-girdle muscles; good distal muscle strength; significant atrophy of posterior paraspinal muscles; hypertrophy of quadratus lumborum muscle; tendon reflexes present bilaterally; normal MRI and nerve conduction studies; EMG of right deltoid normal but EMG of gluteal muscles was myopathic; alkaline phosphatase normal at 59 U/L (normal range 30-120); CPK elevated at 473 U/L (normal range 0-200); donor subject has one allele with 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)] |
| Passage Frozen |
13 |
| Split Ratio |
1:3 |
| 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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