Description:
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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FRENCH/GERMAN
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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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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
No hemangiomas; low-normal IQ; delayed expressive language skills; 3 affected generations |
| dbSNP |
dbSNP ID: 14905 |
| 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 |
8 |
| Split Ratio |
1:3 |
| 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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