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 |
GM18010 [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
|
4
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Relation to Proband
|
brother
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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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Remarks |
HLA type A3,Bw17/A28,Bw15; non-diabetic; see GM03361B Fibroblast; affected brother and father |
Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019 |
PubMed ID: 31026593 |
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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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