GM10669
Fibroblast from Tumor, Adenoma
Description:
COWDEN DISEASE; CD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Biopsy Source
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Adenoma
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Cell Type
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Fibroblast
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Tissue Type
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Tumor
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Tumor, Adenoma
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Race
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White
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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 |
3.2 |
| Passage Frozen |
9 |
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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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| Remarks |
Fibro culture established from a thyroid adenoma nodule; 46,XX; large head; fibrocystic breast with fibroadenoma; tonsilar polyps; lipoma; father has large head, tricelinoma resected from nose & multiple polyps in colon & G I tract |
| dbSNP |
dbSNP ID: 20024 |
| NCBI GTR |
158350 COWDEN SYNDROME 1; CWS1 |
| OMIM |
158350 COWDEN SYNDROME 1; CWS1 |
| Omim Description |
CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED |
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CEREBELLOPARENCHYMAL DISORDER VI; CPD VI, INCLUDED |
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COWDEN DISEASE; CD |
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COWDEN SYNDROME |
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LHERMITTE-DUCLOS DISEASE, INCLUDED |
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MULTIPLE HAMARTOMA SYNDROME; MHAMDYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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