Description:
THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL
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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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FRENCH CANADIAN
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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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|
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
French-Canadian; expired at age 14 hrs; abnormal endochondral ossification with shortening of tubular bones & flaring of epiphyses; stenosis of the foramen magnum & spinal canal; thoracic hypoplasia; shortening & curvature of long bones |
| Knisely AS, Ambler MW, Temporal-lobe abnormalities in thanatophoric dysplasia. Pediatr Neurosci14:169-76 1988 |
| PubMed ID: 3269536 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| 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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