Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
4
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.9 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Clinically unaffected; normal plasma cholesterol; 46,XY; 14% of cells are tetraploid at passage 5; affected sister is GM01355; affected mother is GM01354; affected father is GM01385. |
| Keyel PA, Watkins SC, Traub LM, Endocytic adaptor molecules reveal an endosomal population of clathrin by total internal reflection fluorescence microscopy. J Biol Chem279(13):13190-204 2004 |
| PubMed ID: 14722064 |
| |
| Eller MS, Li GZ, Firoozabadi R, Puri N, Gilchrest BA, Induction of a p95/Nbs1-mediated S phase checkpoint by telomere 3' overhang
specific DNA. FASEB J17(2):152-62 2003 |
| PubMed ID: 12554694 |
| |
| Giometti CS, Gemmell MA, Anderson NL, Two different variants of the same tropomyosin polypeptide in clones from GM1386 human skin fibroblasts. Biochem Biophys Res Commun128:1247-53 1985 |
| PubMed ID: 4004860 |
| 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 |
| Supplement |
- |
|
|