GM10929
LCL from B-Lymphocyte
Description:
ATRANSFERRINEMIA
TRANSFERRIN; TF
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
SLAVIC
|
|
Family Member
|
5
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
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 |
| |
| Gene |
TF |
| Chromosomal Location |
3q21 |
| Allelic Variant 1 |
190000.0010; ATRANSFERRINEMIA |
| Identified Mutation |
ASP77ASN |
| Remarks |
Clinically unaffected; normal level of serum transferrin; donor subject is heterozygous for a G>A transition at nucleotide 229 (c.229G>A) in exon 3 of the TF gene, which results in a missense mutation at codon 77 [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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|
|