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NA16757 DNA from LCL

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
FANCF GENE; FANCF

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Syndromes with Increased Chromosome Breakage
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)]

Characterizations

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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
 
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.
 
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.

Phenotypic Data

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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)]

Publications

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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 cytometry: 2020
PubMed ID: 32857894
 
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
 
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

External Links

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dbSNP dbSNP ID: 18809
Gene Cards FANCF
Gene Ontology GO:0005554 molecular_function unknown
GO:0005634 nucleus
GO:0006281 DNA repair
NCBI Gene Gene ID:2188
NCBI GTR 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
613897 FANCF GENE; FANCF
OMIM 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
613897 FANCF GENE; FANCF
Omim Description FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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  • GM16757 - B-Lymphocyte
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