Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before 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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Remarks |
Clinically affected; complementation group A; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents; noted as HSC72 in several publications (i.e. Duckworth-Rysiecki, et al - PMID: 3919452); refer to GM16749 (HSC72OT) for a fusion donor cell line from the same subject that is ouabain-resistant and 6-thioguanine-resistant (hprt-). |
| Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024 |
| PubMed ID: 38894680 |
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| Hammarsten O, Muslimovic A, Thunström S, Ek T, Johansson P, Use of the cell division assay to diagnose Fanconi anemia patients' hypersensitivity to mitomycin C Cytometry Part B, Clinical cytometry: 2020 |
| PubMed ID: 32857894 |
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| Li L, Peterson CA, Lu X, Wei P, Legerski RJ, Interstrand cross-links induce DNA synthesis in damaged and undamaged plasmids in mammalian cell extracts Molecular and cellular biology19:5619-30 1999 |
| PubMed ID: 10409751 |
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| Duckworth-Rysiecki G, Cornish K, Clarke CA, Buchwald M, Identification of two complementation groups in Fanconi anemia. Somat Cell Mol Genet11:35-41 1985 |
| PubMed ID: 3919452 |
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| Ishida R, Buchwald M, Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res42:4000-6 1982 |
| PubMed ID: 6809308 |
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