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 |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
|
White
|
|
Relation to Proband
|
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
|
Human
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|
Remarks
|
|
| Passage Frozen |
21 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| alkaline phosphatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.3.1 |
| |
| Remarks |
Marked foreshortening of limbs & in utero fractures; soft thorax; virtual lack of ossification; 2 similarly affected sisters; deficient fibroblast liver/bone/kidney alkaline phosphatase activity |
| Passage Frozen |
21 |
| Split Ratio |
1:5 |
| 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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