Description:
ATRANSFERRINEMIA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| 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
|
White
|
|
Ethnicity
|
SLAVIC
|
|
Family Member
|
2
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected; normal level of serum transferrin; donor subject is negative for the missense mutation seen in exon 3 of the TF gene in other family members [ASP77ASN (D77N)]. |
| Knisely AS, Gelbart T, Beutler E, Molecular characterization of a third case of human atransferrinemia. Blood104(8):2607 2004 |
| PubMed ID: 15466165 |
| |
| Hromec A, Payer J Jr, Killinger Z, Rybar I, Rovensky J, [Congenital atransferrinemia] Dtsch Med Wochenschr119:663-6 1994 |
| PubMed ID: 8187613 |
| |
| Hromec, Kongenitale atransferrinamie. Padiatr Praxis38:633 (1989):663-6 1989 |
| PubMed ID: 8187613 |
| |
| Cap J, Lehotska V, Mayerova A, [Congenital atransferrinemia in a 11-month-old child] Cesk Pediatr23:1020-5 1968 |
| PubMed ID: 5711079 |
|
|