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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3
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Relation to Proband
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father
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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 |
9 |
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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 |
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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). |
| Remarks |
Lebanese; 4 affected children; father of GM00667, GM00694, GM00696, and GM00697; fasting plasma total cholesterol less than 250 milligram per microliter; donor subject is heterozygous 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)]. |
| 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 |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Ham's F12 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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