GM01460

GM01460 LCL from B-Lymphocyte

Description:

HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR

Affected:

Yes

Sex:

Female

Age:

38 YR (At Sampling)

Overview

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

Ethnicity

French Canadian

Country of Origin

USA

Family Member

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

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

Remarks

Publications

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