Description:
DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Alternate IDs |
GM18009 [DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM] |
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
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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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Family Member
|
3
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Relation to Proband
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mother
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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 Isoenzyme Electrophoresis |
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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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Remarks |
Non-diabetic; HLA type A9(24),B18/A2,B7; 3 affected children; see GM02706A Fibro |
Walker LE, Ketler TA, Houghten RA, Schulz G, Chersi A, Reisfeld RA, Human major histocompatibility complex class I antigens: residues 61-83 of the HLA-B7 heavy chain specify an alloreactive site. Proc Natl Acad Sci U S A82:539-42 1985 |
PubMed ID: 3881768 |
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Buck D, Greene AE, Coriell LL, Mulivor RA, Juvenile onset diabetes. Cytogenet Cell Genet28:213-6 1980 |
PubMed ID: 7438795 |
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