Description:
VON HIPPEL-LINDAU SYNDROME; VHL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Ophthalmologic Disorders |
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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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ENGLISH/GERMAN
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Family Member
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1
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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 |
6.7 |
| Passage Frozen |
12 |
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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 and by Chromosome Analysis |
| |
| Remarks |
Bilateral retinal angiomas at age 19; neurologic evaluation, CT scan, and IVP were normal; class II pap smear; 46,XX, fra(22)(q13) in peripheral blood lymphocytes; 46,XX in fibroblast culture |
| Passage Frozen |
12 |
| 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 |
| Substrate |
Gelatin |
| Supplement |
- |
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