GM06066
LCL from B-Lymphocyte
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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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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White
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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 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 3; mild anemia, multiple fractures, dull mentality, short stature, obese, decreased visual acuity, dental malocclusion, high arched palate, & mild genu valgum; 2 affected sisters; def RBC carbonic anhydrase II activity |
| 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 |
| Split Ratio |
1:4 |
| 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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