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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ITALIAN
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Family Member
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3
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Relation to Proband
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mother
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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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| PDL at Freeze |
5.54 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase 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; 50% activity. |
| |
| Remarks |
Three affected daughters & 1 unaffected daughter; asymptomatic; 50% of normal RBC carbonic anhydrase II activity; slow growing culture; see GM06067 Lymphoid; proband is GM06066 Lymphoid |
| 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 |
| Cumulative PDL at Freeze |
12.5 |
| Passage Frozen |
9 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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