Description:
DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
brother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
5 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
Non-diabetic; father and brother are diabetic; see GM03239 Lymphoid |
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 |
|
Landas S, Foucar K, Sando GN, Ellefson R, Hamilton HE, Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays. Am J Hematol20:391-400 1985 |
PubMed ID: 4073013 |
|
Buck D, Greene AE, Coriell LL, Mulivor RA, Juvenile onset diabetes. Cytogenet Cell Genet28:213-6 1980 |
PubMed ID: 7438795 |
Passage Frozen |
5 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
- |
|
|