Description:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Maturity-Onset Diabetes of the Young |
Class |
Other Disorders of Known Biochemistry |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
Y
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
Clinically affected with MODY; diagnosed at age 11; see GM01247 Lymphoid; produces IgG3; 46,XY; 6 affected and 4 unaffected sibs; father of GM08007 and 10018; son of GM10036; spouse of GM10017; extended pedigree available in PMID:102555. |
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 |
Passage Frozen |
3 |
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 |
- |
|
|