Description:
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
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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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Ethnicity
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BELGIAN
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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 |
2 |
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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 |
| |
| carbonate dehydratase (carbonic anhydrase II) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.1 |
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| Remarks |
Deficient RBC carbonic anhydrase II activity; parents are third cousins; short stature; anemia; hepatosplenomegaly; proximal and distal tubular acidosis; generalized osteoporosis |
| Barbie DA, Kudlow BA, Frock R, Zhao J, Johnson BR, Dyson N, Harlow E, Kennedy BK, Nuclear reorganization of mammalian DNA synthesis prior to cell cycle exit. Mol Cell Biol24(2):595-607 2004 |
| PubMed ID: 14701733 |
| |
| Vainsel M, Fondu P, Cadranel S, Rocmans C, Gepts W, Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr Scand61:429-34 1972 |
| PubMed ID: 5041390 |
| Passage Frozen |
2 |
| 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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