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Overview
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Collection
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Inherited Disorders |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD) |
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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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Species
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Homo sapiens
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Common Name
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Human
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Age At Sampling
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48 YR
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Sex
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Female
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Family
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2217
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Family Member
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1
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Relation to Proband
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proband
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Clinically Affected
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Yes
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Confirmation
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Clinical summary/Case history
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Remarks
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| Catalog ID |
GM17726 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00
Academic and not-for-profit pricing: $85.00 |
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD) |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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Phenotypic Data
| Remark |
Clinically affected; progressive bilateral weakness of arms and legs; wheelchair-dependent; facial muscles weak; scapular winging; elevated serum CPK; D4Z4 repeats for this donor subject are as follows: at 4q35: 28/59 copies (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and at 10q26: 5/22 copies; this patient presented with FSHD, but does not have typical D4Z4 repeats (an occurrence in about 5% of cases); the diagnosis is indicated as non-4q FSHD |
Culture Protocols
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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