Description:
HEMOCHROMATOSIS; HFE
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
sister
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Clinically normal; 3 affected brothers; affected brother is GM14653; negative for the C282Y and H63D mutations of the HFE (HLA-H) gene |
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