GM23642
Fibroblast from Skin, Unspecified
Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
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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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Not Hispanic/Latino
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Ethnicity
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AMERICAN INDIAN/GERMAN/IRISH/FRENCH
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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 |
1.64 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Subject is clinically affected; onset of symptoms at age 6 years; weakness in facial muscles, biceps, quads, scapula and hips; difficulty lifting arms, difficulty getting up from a chair and difficulty climbing stairs; treatments: physical therapy, occupational therapy, bilateral scapular thoracic fusion; walks with braces and cane; family history: mother, maternal aunt and maternal grandmother are also affected; see GM23604 for this subject’s lymphoblast line. |
| Cumulative PDL at Freeze |
4.37 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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