NA10269
DNA from Fibroblast
Description:
EPIDERMOLYSIS BULLOSA: DYSTROPHIC, JUNCTIONAL, OR SIMPLEX TYPES
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 |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
|
DNA from Fibroblast
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Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
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ISCN
|
46,XY.arr[hg19](1-22)x2,(XY)x1
|
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 |
|
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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