Description:
HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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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 |
3 |
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| alkaline phosphatase |
Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls. EC Number: 3.1.3.1 |
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| alkaline phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.1 |
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| Remarks |
Severe lethal, in utero onset; deficient serum and fibroblast alkaline phosphatase activity |
| Fedde KN, Michell MP, Henthorn PS, Whyte MP, Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. J Clin Endocrinol Metab81:2587-94 1996 |
| PubMed ID: 8675582 |
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| Weiss MJ, Ray K, Fallon MD, Whyte MP, Fedde KN, Lafferty MA, Mulivor RA, Harris H, Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. Am J Hum Genet44:686-94 1989 |
| PubMed ID: 2705456 |
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| Whyte MP, Vrabel LA, Schwartz TD, Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. J Clin Endocrinol Metab57:831-7 1983 |
| PubMed ID: 6885967 |
| Passage Frozen |
3 |
| 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 |
- |
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