GM01448
LCL from B-Lymphocyte
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| Remarks |
Elevated serum cholesterol; affected father and sister; donor subject has one allele which has a 3 bp deletion at nucleotide 652 in exon 4 of the LDLR gene (652delGGT) resulting in the deletion of Gly197 [Gly197del (G197del)] |
| Bodamer OA, Bercovich D, Schlabach M, Ballantyne C, Zoch D, Beaudet AL, Use of denaturing HPLC to provide efficient detection of mutations causing
familial hypercholesterolemia. Clin Chem48(11):1913-8 2002 |
| PubMed ID: 12406975 |
| |
| Kayden HJ, Hatam L, Beratis NG, Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and the esterification of cholesterol in human long term lymphoid cell lines. Biochemistry15:521-8 1976 |
| PubMed ID: 1252410 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|