Description:
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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
|
|
Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
|
|
Race
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Hispanic/Latino
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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,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Ectodermal dysplasia; abnormal teeth; sparse scalp hair, lashes and brows; cleft palate |
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