NA10112
DNA from Fibroblast
Description:
INCONTINENTIA PIGMENTI; IP
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
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
son
|
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 |
|
Remarks |
Anencephaly; mother, maternal grandmother, & maternal greatgrandmother have incontinentia pigmenti; 46,XY; fetus is at risk for IP: mother is GM12225 Lymphoid & grandmother is GM12226 Lymphoid |
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