Description:
CENTRAL CORE DISEASE OF MUSCLE
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
|
|
Race
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White
|
|
Family Member
|
1
|
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Relation to Proband
|
proband
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|
Confirmation
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Clinical summary/Case history
|
|
ISCN
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46,XY,t(7;11)(7pter>7q11::11p11> 11pter;11qter>11p11::7q11>7qter)[3]/46,XY[47]
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Species
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Homo sapiens
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Common Name
|
Human
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|
Remarks
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|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Weakness and positive muscle biopsy: no type II fibers and type I fibers have central cores; positive family history; 46, XY/46,XY,t(7;11)(7pter>7q11::11p11> 11pter;11qter>11p11::7q11>7qter); balanced; 94%/6% |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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