Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP B
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| 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 B; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents. |
| 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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| Araten DJ, Golde DW, Zhang RH, Thaler HT, Gargiulo L, Notaro R, Luzzatto L, A quantitative measurement of the human somatic mutation rate Cancer research65:8111-7 2005 |
| PubMed ID: 16166284 |
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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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| 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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