GM16757
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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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)] |
| Hristodor AM, Cappelli E, Baldisseri E, Valli R, Montalbano G, Micheloni G, Porta G, Frattini A, Ravera S, Fioredda F, Lippi G, Dufour C, Cipolli M, Bezzerri V, Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia Cell death discovery11:286 2025 |
| PubMed ID: 40544182 |
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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 cytometry11:286 2021 |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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