Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
French Canadian
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
LDLR |
| Chromosomal Location |
19p13.2-p13.1 |
| Allelic Variant 1 |
606945.0015; HYPERCHOLESTEROLEMIA, FAMILIAL |
| Identified Mutation |
CYS646TYR |
| Remarks |
Affected mother of a clinically diagnosed receptor negative child (GM00488); elevated plasma cholesterol; donor subject has one allele which has a G>A (TGT>TAT) transition at nucleotide 2000 in exon 14 of the LDLR gene (2000G>A) resulting in the substitution of tyrosine for cysteine at codon 646 [Cys646Tyr (C646Y)]- for methods, please refer to publication by Bodamer et al. (PMID 12406975); see same subject B-lymphocyte (GM01460). |
| Innerarity TL, Pitas RE, Mahley RW, Receptor binding of cholesterol-induced high-density lipoproteins containing predominantly apoprotein E to cultured fibroblasts with mutations at the low-density lipoprotein receptor locus. Biochemistry19:4359-65 1980 |
| PubMed ID: 7417411 |
| |
| Kruth HS, Vaughan M, Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy. J Lipid Res21:123-30 1980 |
| PubMed ID: 6986448 |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|