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 |
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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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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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1
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Relation to Proband
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proband
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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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| PDL at Freeze |
5.8 |
| Passage Frozen |
7 |
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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 consanguineous mating; fasting plasma total cholesterol of 580 milligram per microliter; LDLR activity in fibroblasts was 60-70% of normal controls; three affected sibs: GM00694, GM00696, 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)]. |
| 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 |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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