Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| 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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Relation to Proband
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proband
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Confirmation
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Molecular 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 LINE assay |
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| Gene |
FANCC |
| Chromosomal Location |
9q22.3 |
| Allelic Variant 1 |
227645.0003; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS,A>T,+4; Using reverse transcription PCR and chemical mismatch cleavage (CMC), Whitney et al. (Nat Genet 4:202-205, 1993) demonstrated homozygosity for an identical splice mutation in 2 Ashkenazi Jewish patients with Fanconi anemia. Three additional patients bearing this allele were found through screening 21 other families. A single base change in the fourth intronic base changed the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4. They referred to the allele as IVS4+4, A-to-T. |
| Remarks |
Donor subject has one allele with a splice site mutation [IVS4+4A>T] in the FANCC gene in which a single base change in the fourth intronic base changes the sequence from a consensus A to T, resulting in deletion of the 111-bp exon 4 |
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