NA10269
DNA from Fibroblast
Description:
EPIDERMOLYSIS BULLOSA: DYSTROPHIC, JUNCTIONAL, OR SIMPLEX TYPES
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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 |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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ISCN
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46,XY.arr[hg19](1-22)x2,(XY)x1
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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 |
2 |
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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 |
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| Remarks |
Neg fam hx; skin absent on 50% of body at birth; esophageal reflux; blisters; scars; constipation; mult caries; partial pseudosyndactyly formation on both hands & feet; prob recessive dystrophic Hallopeau-Siemens type; see GM10268 Lymph. |
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