GM10913
LCL from B-Lymphocyte
Description:
ATRANSFERRINEMIA
TRANSFERRIN; TF
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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SLAVIC
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Family Member
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4
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Relation to Proband
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father
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
TF |
| Chromosomal Location |
3q21 |
| Allelic Variant 1 |
190000.0010; ATRANSFERRINEMIA |
| Identified Mutation |
ASP77ASN |
| Remarks |
Clinically unaffected; about one half 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 |
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| Hromec A, Payer J Jr, Killinger Z, Rybar I, Rovensky J, [Congenital atransferrinemia] Dtsch Med Wochenschr119:663-6 1994 |
| PubMed ID: 8187613 |
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| Hromec, Kongenitale atransferrinamie. Padiatr Praxis38:633 (1989):663-6 1989 |
| PubMed ID: 8187613 |
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| Cap J, Lehotska V, Mayerova A, [Congenital atransferrinemia in a 11-month-old child] Cesk Pediatr23:1020-5 1968 |
| PubMed ID: 5711079 |
| Split Ratio |
1:3 |
| 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 |
- |
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