NA03040
DNA from Fibroblast
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
16 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
LDLR |
| Chromosomal Location |
19p13.2-p13.1 |
| Allelic Variant 1 |
606945.0005; HYPERCHOLESTEROLEMIA, FAMILIAL |
| Identified Mutation |
GLY197DEL |
| |
| Gene |
LDLR |
| Chromosomal Location |
19p13.2-p13.1 |
| Allelic Variant 2 |
606945.0005; HYPERCHOLESTEROLEMIA, FAMILIAL |
| Identified Mutation |
GLY197DEL |
| Remarks |
Clinically affected; very high serum LDL (820 mg/L), triglycerides: 85; normal triglycerides; cutaneous and tendinous xanthomas; corneal arcus; no response to diet and bile chelating resins; fibroblast assays show minimal binding, internalization and degradation and oleate incorporation into cholesterol ester; 120I-LDL binding assay showed this line to have <5% normal activity (LDL receptor negative); Family history: mother’s side of the family reported to be strongly positive for early onset atherosclerosis and hypercholesterolemia; affected mother(GM03065)-serum cholesterol level 870 mg/L, triglycerides: 51, no xanthomas, no clinical evidence of atherosceloris; affected father(GM03064)-serum cholesterol level 299 mg/L, triglycerides: 150, no xanthomas, no clinical evidence of atherosclerosis. |
| Omer L, Hindi L, Militello G, Stivers KB, Tien KC, Boyd NL, Familial hypercholesterolemia class II low density lipoprotein-receptor response to statin treatment Disease models & mechanisms: 2019 |
| PubMed ID: 32005714 |
| |
| Villard EF, Thedrez A, Blankenstein J, Croyal M, Tran TT, Poirier B, Le Bail JC, Illiano S, Nobécourt E, Krempf M, Blom DJ, Marais AD, Janiak P, Muslin AJ, Guillot E, Lambert G, PCSK9 Modulates the Secretion But Not the Cellular Uptake of Lipoprotein(a) Ex Vivo: An Effect Blunted by Alirocumab JACC Basic to translational science1:419-427 2018 |
| PubMed ID: 29308438 |
| |
| Agnello V, Abel G, Elfahal M, Knight GB, Zhang QX, Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor. Proc Natl Acad Sci U S A96:12766-71 1999 |
| PubMed ID: 10535997 |
| |
| Chatterjee, Alterations in cell surface glycosphingolipids and their metabolism in familial hypercholesterolemic fibroblasts. (from CELL SURFACE GLYCOLIPIDS, C.C. Sweeley, ed.) ACS Symposium Series16:265 (1980):12766-71 1980 |
| PubMed ID: 10535997 |
|
|