Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
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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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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 positive result with a primer for Yq11, DYS227. |
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| Remarks |
Clinically affected; complementation group D1; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents. |
| Sachsenweger J, Jansche R, Merk T, Heitmeir B, Deniz M, Faust U, Roggia C, Tzschach A, Schroeder C, Riess A, Pospiech H, Peltoketo H, Pylkäs K, Winqvist R, Wiesmüller L, ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients Cell death & disease14:328 2022 |
| PubMed ID: 37198153 |
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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 cytometry14:328 2020 |
| PubMed ID: 32857894 |
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| Strathdee CA, Duncan AM, Buchwald M, Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet1:196-8 1992 |
| PubMed ID: 1303234 |
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| Strathdee CA, Gavish H, Shannon WR, Buchwald M, Cloning of cDNAs for Fanconi's anaemia by functional complementation [published erratum appears in Nature 1992 Jul 30;358(6385):434] Nature356:763-7 1992 |
| PubMed ID: 1574115 |
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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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