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GM13020 LCL from B-Lymphocyte

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC GENE; FANCC

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities
Class Syndromes with Increased Chromosome Breakage
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Biochemical characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; line HSC536; complementation group C; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents; 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 GM13021.

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 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.

Phenotypic Data

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Remarks Clinically affected; line HSC536; complementation group C; increased spontaneous chromosome breakage; increased sensitivity to DNA cross-linking agents; 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 GM13021.

Publications

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Li L, Peterson CA, Lu X, Wei P, Legerski RJ, Interstrand cross-links induce DNA synthesis in damaged and undamaged plasmids in mammalian cell extracts Molecular and cellular biology19:5619-30 1999
PubMed ID: 10409751

External Links

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dbSNP dbSNP ID: 11716
Gene Cards FANCC
Gene Ontology GO:0004517 nitric-oxide synthase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006281 DNA repair
GO:0006461 protein complex assembly
GO:0006809 nitric oxide biosynthesis
NCBI Gene Gene ID:2176
NCBI GTR 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
613899 FANCC GENE; FANCC
OMIM 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
613899 FANCC GENE; FANCC
Omim Description FACC; FAC
  FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
  FANCONI PANCYTOPENIA, TYPE 3; FA3

Culture Protocols

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Split Ratio 1:2
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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