GM19015
LCL from B-Lymphocyte
Description:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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Black/African American
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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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| 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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| Remarks |
Clinically affected; multiple periarticular and subcutaneous calcified masses (right foot sole, right 4th toe, both hips, both elbows, both shoulders, both axiliae, right chest and neck); 3 years of age at presentation; primary lesions on sole of left foot and elbow; unusual lesion site was right neck lesion debulking causing torticolis and extending into hypopharynx up to soft palate causing dysphagia and airway compression; treated with low protein and calcium diet; case #3 in Am J Surg Pathol 17(8):788-802, 1993 |
| Slavin RE, Wen J, Kumar D, Evans EB, Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. Am J Surg Pathol17(8):788-802 1993 |
| PubMed ID: 8338191 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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