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 |
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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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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 |
13 |
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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 |
171760.0003; HYPOPHOSPHATASIA, INFANTILE |
| Identified Mutation |
ASP277ALA; Henthorn et al. [Proc. Nat. Acad. Sci. 89: 9924-9928 (1992)] found in 1 allele of the ALPL gene in cell line GM04235 an A-to-C transversion at nucleotide 1057 of exon 9 resulting in substitution of alanine for asp277. |
| 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 |
| Passage Frozen |
13 |
| 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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