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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Family Member
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2
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Relation to Proband
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sister
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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 |
5 |
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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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| 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 |
Diagnosed at age 1; short stature, multiple fractures, dull mentality, dental malocclusion, bilateral optic atrophy, high arched palate, & mild hirsutism; deficient RBC carbonic anhydrase II activity; see GM06065 Lymphoid |
| Roth DE, Venta PJ, Tashian RE, Sly WS, Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci U S A89(5):1804-8 1992 |
| PubMed ID: 1542674 |
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| Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, et al, Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med313:139-45 1985 |
| PubMed ID: 3925334 |
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| Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE, Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci U S A80:2752-6 1983 |
| PubMed ID: 6405388 |
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| Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV, Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. Am J Med69:64-74 1980 |
| PubMed ID: 7386510 |
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| Sly, Recessive osteopetrosis: New clinical phenotype. Am J Hum Genet24:34a (1972):64-74 1972 |
| PubMed ID: 7386510 |
| Passage Frozen |
5 |
| Split Ratio |
1:2 |
| 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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