NA04234
DNA from Fibroblast
Description:
HYPOPHOSPHATASIA, INFANTILE
ALKALINE PHOSPHATASE, LIVER; ALPL
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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 |
| 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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Family Member
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2
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Relation to Proband
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mother
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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 |
ALPL |
| Chromosomal Location |
1p36.1-p34 |
| Allelic Variant 1 |
171760.0002; HYPOPHOSPHATASIA, INFANTILE |
| Identified Mutation |
ARG54CYS; In studies of fibroblasts from 4 unrelated patients with severe (perinatal or infantile) hypophosphatasia (241500), Henthorn et al. [Proc. Nat. Acad. Sci. 89: 9924-9928 (1992)] identified a different mutation in each of the 8 ALPL alleles, indicating that all were genetic compounds. They found 2 linked polymorphisms in 1 allele of each patient. One allele found in cell line GM04235 was a C-to-T transition at nucleotide 387 in exon 4 leading to substitution of cysteine for arginine at amino acid 54. |
| Remarks |
Clinically normal; low serum alkaline phosphatase level; 2 affected children |
| Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP, Different missense mutations at the tissue-nonspecific alkaline phosphatase gene
locus in autosomal recessively inherited forms of mild and severe
hypophosphatasia. Proc Natl Acad Sci U S A89(20):9924-8 1992 |
| PubMed ID: 1409720 |
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