Description:
CARBONIC ANHYDRASE I; CA1
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17043 [CARBONIC ANHYDRASE I; CA1] |
|
GM17370 [CARBONIC ANHYDRASE I; CA1] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
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Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
GREEK
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|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Greek; clinically normal |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
| |
| Kendall AG, Tashian RE, Erythrocyte carbonic anhydrase I: inherited deficiency in humans. Science197:471-2 1977 |
| PubMed ID: 406674 |
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