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NA01460 DNA from LCL

Description:

HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

Affected:

Yes

Sex:

Female

Age:

38 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
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 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 fibroblast (GM00483).

Characterizations

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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 606945.0015; HYPERCHOLESTEROLEMIA, FAMILIAL
Identified Mutation CYS646TYR

Phenotypic Data

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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 fibroblast (GM00483).

Publications

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Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020
PubMed ID: 32706999
 
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

External Links

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dbSNP dbSNP ID: 19249
Gene Cards LDLR
Gene Ontology GO:0004888 transmembrane receptor activity
GO:0005041 low-density lipoprotein receptor activity
GO:0005319 lipid transporter activity
GO:0005509 calcium ion binding
GO:0005887 integral to plasma membrane
GO:0005905 coated pit
GO:0006493 O-linked glycosylation
GO:0006629 lipid metabolism
GO:0006869 lipid transport
GO:0006897 endocytosis
GO:0008034 lipoprotein binding
GO:0008203 cholesterol metabolism
NCBI Gene Gene ID:3949
NCBI GTR 143890 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
OMIM 143890 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
Omim Description FH
  HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
  HYPERLIPOPROTEINEMIA, TYPE IIA
  LDL RECEPTOR DISORDERLOW DENSITY LIPOPROTEIN RECEPTOR, INCLUDED; LDLR, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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