GM13021
LCL from B-Lymphocyte
Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC GENE; FANCC
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 |
Biopsy Source
|
Peripheral vein
|
Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
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Confirmation
|
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
|
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. |
|
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. |
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 |
|
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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