GM01448
LCL from B-Lymphocyte
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| 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 |
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| 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 |
- |
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