GM08008
LCL from B-Lymphocyte
Description:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Maturity-Onset Diabetes of the Young |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
12
|
Family History
|
Y
|
Relation to Proband
|
sister
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Unaffected non-diabetic; see GM04421 Fibroblast; normal glucose tolerance since age 11; 7 affected sibs; sister of GM01237; daughter of GM10036; extended pedigree available in PMID:102555. |
Shaw SY, Blodgett DM, Ma MS, Westly EC, Clemons PA, Subramanian A, Schreiber SL, Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes Proceedings of the National Academy of Sciences of the United States of America: 2010 |
PubMed ID: 21183721 |
|
Bell GI, Xiang KS, Newman MV, Wu SH, Wright LG, Fajans SS, Spielman RS, Cox NJ, Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci U S A88:1484-8 1991 |
PubMed ID: 1899928 |
|
Fajans SS, Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev5:579-606 1989 |
PubMed ID: 2689121 |
|
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 |
Split Ratio |
1:5 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|
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