Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC GENE; FANCC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
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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| 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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| 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 |
FANCC |
| Chromosomal Location |
9q22.3 |
| Allelic Variant 1 |
227645.0001; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| Identified Mutation |
LEU554PRO; Strathdee et al (Nat Genet 1:196-198, 1992) and Gavish et al. (Am J Hum Genet 51 suppl:A128 only, 1992) demonstrated that HSC536N cells, which represent the only confirmed Fanconi anemia cell line of complementation group C, have a T-to-C transition at base 1913 that changes codon 553 from leucine to proline (L553P). Gavish et al. (Hum Molec Genet 2:123-126, 1993) corrected the previously published FACC cDNA sequence which omitted 3 nucleotides. The corrected sequence predicts a 1,677-bp ORF and a protein of 558 amino acids. Therefore, the previously reported L553P mutation is, in fact, L554P. |
| Remarks |
Clinically affected; line HSC536; complementation group C; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents; donor subject has a T>C transition at nucleotide 1916 in exon 14 of the FANCC gene [1916T>C] resulting in a substitution of proline for leucine at codon 554 [Leu554Pro (L554P)]; same patient as GM13021. |
| 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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