Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Ethnicity
|
AFRICAN-AMERICAN
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically healthy; hereditary persistence of fetal hemoglobin; childhood asthma; hypothyroidism; premature ovarian failure; hemoglobin electrophoresis results: HbA = 68.5%, HbA2 = 2.1%, HbF = 29.4%, HbS = 0%; hemoglobin = 13.3 g/dl; MCV = 79.8; mother of GM20936 and GM20937.
|
|
|