GM13021
LCL from B-Lymphocyte
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 |
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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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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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| 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 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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| 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 HSC536N; complementation group C; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents; lipofected with the plasmid psv2neo and selected in medium with G418 (0.4mg/ml); 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 GM13020. |
| Sheth AS, Chan KK, Liu S, Wan J, Angus SP, Rhodes SD, Mitchell DK, Davis C, Ridinger M, Croucher PJ, Zeidan AM, Wijeratne A, Qian S, Tran NT, Sierra Potchanant EA, PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia Cancer research communications5:648-667 2025 |
| PubMed ID: 40111122 |
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| Strathdee CA, Duncan AM, Buchwald M, Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet1:196-8 1992 |
| PubMed ID: 1303234 |
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| Strathdee CA, Gavish H, Shannon WR, Buchwald M, Cloning of cDNAs for Fanconi's anaemia by functional complementation [published erratum appears in Nature 1992 Jul 30;358(6385):434] Nature356:763-7 1992 |
| PubMed ID: 1574115 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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