Description:
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
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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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Family Member
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1
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Relation to Proband
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paternal grandfather
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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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Gastrointestinal bleeding; mucous telangiectasias; 4 affected generations |
| dbSNP |
dbSNP ID: 18899 |
| NCBI GTR |
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 |
| OMIM |
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 |
| Omim Description |
ORW DISEASE |
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OSLER-RENDU-WEBER DISEASE |
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TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT |
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TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE I; HHT1 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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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