Description:
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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IRISH
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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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| 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 |
Unilateral renal agenesis; bilateral absence of the vas deferens; fructose (-) azoospermia; the donor subject tested negative for the following 16 mutations in the ABCC7 (CFTR) gene: deltaF508; G542X; W1282X; G551D; N1303K; R117H; 1717-1G>A; 3849+10C>T; deltaI507; R347P; R553X; R560T; S549N; 621+1G>T; M1101K; 3905insT. |
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