Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
FANCF GENE; FANCF
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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Clinical summary/Case history
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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 |
FANCF |
| Chromosomal Location |
11p15 |
| Allelic Variant 1 |
603467.0002; FANCONI ANEMIA, COMPLEMENTATION GROUP F |
| Identified Mutation |
47-BP DEL; In the reference FA-F cell line EUFA121 (Joenje et al., Am J Hum Genet 61:940-944, 1997), de Winter et al. (Hum Molec Genet 9(18):2665-2674, 2000) found compound heterozygosity for a 47-bp deletion (349-395del) in the FANCF gene and a 16C-T transition resulting in a gln6-to-ter nonsense mutation. |
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| Gene |
FANCF |
| Chromosomal Location |
11p15 |
| Allelic Variant 2 |
603467.0003; FANCONI ANEMIA, COMPLEMENTATION GROUP F |
| Identified Mutation |
GLN6TER; In the reference FA-F cell line EUFA121 (Joenje et al., Am J Hum Genet 61:940-944, 1997), de Winter et al. (Hum Molec Genet 9(18):2665-2674, 2000) found compound heterozygosity for a 47-bp deletion (349-395del) in the FANCF gene and a 16C-T transition resulting in a gln6-to-ter nonsense mutation. |
| Remarks |
Clinically affected; line EUFA121.L; complementation group F; donor subject is a compound heterozygote: one allele carries a 47 bp deletion (349_395del) in the FANCF gene and the second allele has a C>T transition at nucleotide 16 (16C>T) resulting in a gln6-to-ter nonsense mutation [Gln6Ter (Q6X)] |
| 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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| Briot D, Macé-Aimé G, Subra F, Rosselli F, Aberrant activation of stress-response pathways leads to TNF-alpha oversecretion in Fanconi anemia Blood111:1913-23 2007 |
| PubMed ID: 18055871 |
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| de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H, The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum Mol Genet9(18):2665-74 2000 |
| PubMed ID: 11063725 |
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