Description:
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Connective Tissue, Muscle, and Bone |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
BELGIAN
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
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 |
|
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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