GM01838
LCL from B-Lymphocyte
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 |
|
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
|
10
|
|
Family History
|
Y
|
|
Relation to Proband
|
cousin
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected with JOD/IDDM; see GM01837 Fibroblast; diagnosed at age 18; HLA type A28(A2),Aw30,B12(B13),Bw35; paternal 1st cousin once removed of the 6 sibs; daughter of GM10041 and 10043; unaffected grandfather is proband's paternal uncle; 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|