NA00697
DNA from Fibroblast
Description:
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
ARH GENE; ARH
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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LEBANESE
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Family Member
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5
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Relation to Proband
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brother
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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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| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| 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). |
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| 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). |
| Remarks |
Lebanese; large xanthomas; product of a consanguineous mating; fasting plasma total cholesterol of 440 milligram per microliter; LDLR activity in fibroblasts was 60-70% of normal controls; 3 affected sibs, GM00667, GM00694, GM00696; 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)]. |
| Maurer ME, Cooper JA, The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH Journal of cell science119:4235-46 2006 |
| PubMed ID: 16984970 |
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| 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 |
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| 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 |
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| 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 |
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