NA01355
DNA from Fibroblast
Description:
HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
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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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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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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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| Passage Frozen |
7 |
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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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| URACIL DNA GLYCOSYLASE |
Seal et al (Proc Natl Acad Sci USA 85:2339-2343, 1988) reported that monoclonal antibody, 40.10.09 to normal uracil DNA glycosylase had normal immunoreactivity with the uracil DNA glycosylase from this cell culture. In contrast, the antibody did not recognize or inhibit the native enzyme from five different Bloom syndrome cultures. |
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| Remarks |
Clinically affected; symptom onset and diagnosis at 7 years of age; xanthomas overlying each patella; history of severe hypercholesterolemia (625 mg/dL at age 9; highest measurement: 700 mg/dL; lowest measurement after treatment with Atromid, choloxin, cholestyramine: 500 mg/dL; cholesterol eventually decreased to 425 mg/dL following ileal bypass performed at age 10); xanthomas resolved following ileal bypass; low density lipoprotein receptor activity found to be partially negative (receptor activity measured using: binding, internalization, degradation, 14 C oleate incorporation, biosynthesis of 35 S methionine, and ligand blotting); possibly a severe heterozygote, mild homozygote, or double heterozygote; treatments: low-fat and low-cholesterol diet; nicotinic acid from age 10 to age 13; family history: affected mother (cholesterol 359 mg/dL, no xanthomas) (GM01354), affected father (cholesterol 334 mg/dL, no xanthomas) (GM01385), unaffected brother (GM01386), and affected maternal grandmother (hypercholesterolemia but no xanthomas) (not in repository), paternal grandfather died at age 44 from a heart attack (not in repository). |
| Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988 |
| PubMed ID: 3353381 |
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