Description:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Maturity-Onset Diabetes of the Young |
| Class |
Other Disorders of Known Biochemistry |
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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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Country of Origin
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USA
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Family Member
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2
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Family History
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Y
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Relation to Proband
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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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| Passage Frozen |
5 |
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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 |
Clinically affected with MODY; diagnosed at age 29; see GM01246 Lymphoid; brother of GM01237; father of GM07974, GM08072, GM01410, GM08071, and GM10211; son of GM10036; spouse of GM07973; donor subject has a missense polymorphism of the HNF4A (TCF14) gene: a C>T transition at nucleotide 609 in exon 4 (609C>T) resulting in a threonine to isoleucine change at codon 130 [Thr130Ile (T130I)]; extended pedigree available in PMID:102555. |
| Abdullah, K.M., Abdullah, A., Johnson, M.L., Bilski, J.J., Petry, K., Redmer, D.A., Reynolds, L.P., and Grazul-Bilska, A.T., Effects of Aloe vera on Gap Junctional Intercellular Communication and Proliferation of Human Diabetic and Nondiabetic Skin Fibroblasts J Alternative and Complementary Med9(5):711-718 2003 |
| PubMed ID: 14629848 |
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| Fajans SS, Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev5:579-606 1989 |
| PubMed ID: 2689121 |
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| Fajans SS, Cloutier MC, Crowther RL, The Banting Memorial Lecture 1978. Clinical and etiologic heterogeneity of idiopathic diabetes mellitus. Diabetes27:1112-25 1978 |
| PubMed ID: 102555 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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