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GM00696 Fibroblast

Description:

HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
ARH GENE; ARH

Affected:

Yes

Sex:

Female

Age:

5 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity LEBANESE
Family Member 4
Relation to Proband sister
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Lebanese; product of a consanguineous mating; fasting plasma total cholesterol of 500 milligram per microliter; large xanthomas; 3 affected sibs, GM00667, GM00694, GM00697; donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene, resulting in a nonsense mutation in codon 136, a glutamine-to-ter substitution [Gln136TER (Q136X)].

Characterizations

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Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene ARH
Chromosomal Location 1p36-p35
Allelic Variant 1 605747.0003; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Identified Mutation GLN136TER; In a Lebanese family with autosomal recessive hypercholesterolemia (603813), Garcia et al. (2001) found that all affected individuals were homozygous for a C-to-T transition at nucleotide 406 of the ARH gene, resulting in a glu-to-ter substitution at codon 136 (Q136X).
 
Gene ARH
Chromosomal Location 1p36-p35
Allelic Variant 2 605747.0003; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Identified Mutation GLN136TER; In a Lebanese family with autosomal recessive hypercholesterolemia (603813), Garcia et al. (2001) found that all affected individuals were homozygous for a C-to-T transition at nucleotide 406 of the ARH gene, resulting in a glu-to-ter substitution at codon 136 (Q136X).

Phenotypic Data

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Remarks Lebanese; product of a consanguineous mating; fasting plasma total cholesterol of 500 milligram per microliter; large xanthomas; 3 affected sibs, GM00667, GM00694, GM00697; donor subject is homozygous for a C-to-T transition at nucleotide 406 (c.406C>T) in exon 4 of the ARH gene, resulting in a nonsense mutation in codon 136, a glutamine-to-ter substitution [Gln136TER (Q136X)].

Publications

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Thedrez A, Sjouke B, Passard M, Prampart-Fauvet S, Guédon A, Croyal M, Dallinga-Thie G, Peter J, Blom D, Ciccarese M, Cefalù AB, Pisciotta L, Santos RD, Averna M, Raal F, Pintus P, Cossu M, Hovingh K, Lambert G, Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report Arteriosclerosis, thrombosis, and vascular biology36:1647-50 2015
PubMed ID: 27079874
 
Mishra SK, Watkins SC, Traub LM, The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. Proc Natl Acad Sci U S A99(25):16099-104 2002
PubMed ID: 12451172
 
Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science292(5520):1394-8 2001
PubMed ID: 11326085
 
Cooper PR, Nowak NJ, Higgins MJ, Church DM, Shows TB, Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes. Genomics49:419-29 1998
PubMed ID: 9615227
 
Khachadurian AK, Uthman SM, Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. Nutr Metab15:132-40 1973
PubMed ID: 4351242

External Links

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dbSNP dbSNP ID: 17357
Gene Cards ARH
LDLRAP1
NCBI Gene Gene ID:26119
Gene ID:53363
NCBI GTR 603813 HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4
605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
OMIM 603813 HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4
605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
Omim Description HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH

Images

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View pedigree 

Culture Protocols

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Passage Frozen 6
Split Ratio 1:3
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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