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GM16633 Fibroblast from Skin, Unspecified

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
FANCD2 GENE; FANCD2

Affected:

Yes

Sex:

Male

Age:

7 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
Class Syndromes with Increased Chromosome Breakage
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; café au lait spots; thrombocytopenia, anemia, and leukopenia at age 5; bleeding at age 7; MMC and DEB sensitivity; chromosome instability; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 376 of the FANCD2 gene [376A>G] resulting in a substitution of glycine for serine at codon 126 as well as abnormal splicing and the insertion of 13 bp from intron 5 into the mRNA via the utilization of a cryptic splice site [Ser126Gly (S126G) and 13-bp INS], and a second allele has a G>A transition at nucleotide 3707 of the FANCD2 gene [3707G>A] resulting in a substitution of histidine for arginine at codon 1236 [Arg1236His (R1236H)]; affected sibling; line PD20 hygro; complementation group D2; hygromycin resistant; immortalized fibroblast line; corrected version of this line is GM16634; uncorrected lymphoblast line is GM16756.

Characterizations

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PDL at Freeze 5.93
Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene FANCD2
Chromosomal Location 3p25.3
Allelic Variant 1 227646.0002; FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Identified Mutation SER126GLY AND 13-BP INS; In the PD20 cell line from a family with Fanconi anemia complementation group D2, Timmers et al. (Molec Cell 7:241-248, 2001) identified an A-to-G transition at nucleotide 376 of the FANCD2 gene, resulting in a ser126-to-gly substitution. The mutation also resulted in abnormal splicing and the insertion of 13 bp from intron 5 into the mRNA via the utilization of a cryptic splice site. Forty-three of 43 (100%) independently cloned RT-PCR products with this mutation contained this insertion, whereas only 1 of 31 (3%) control cDNA clones displayed misspliced mRNA. The 13-bp insertion generated a frameshift and predicts a severely truncated protein of 180 amino acids. The mutation was not a common polymorphism and was inherited from the mother. The paternal mutation identified in this family was an arg1236-to-his substitution (227646.0001).
 
Gene FANCD2
Chromosomal Location 3p25.3
Allelic Variant 2 227646.0001; FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Identified Mutation ARG1236HIS; In the PD20 cell line from a family with Fanconi anemia complementation group D2, Timmers et al. (Molec Cell 7:241-248, 2001) identified a G-to-A transition at nucleotide 3707 of the FANCD2 gene, resulting in an arg1236-to-his substitution. The mutation was not a common polymorphism and was inherited from the father. The maternal mutation identified in this family was an A-to-G transition at nucleotide 376 (227646.0002).

Phenotypic Data

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Remarks Clinically affected; café au lait spots; thrombocytopenia, anemia, and leukopenia at age 5; bleeding at age 7; MMC and DEB sensitivity; chromosome instability; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 376 of the FANCD2 gene [376A>G] resulting in a substitution of glycine for serine at codon 126 as well as abnormal splicing and the insertion of 13 bp from intron 5 into the mRNA via the utilization of a cryptic splice site [Ser126Gly (S126G) and 13-bp INS], and a second allele has a G>A transition at nucleotide 3707 of the FANCD2 gene [3707G>A] resulting in a substitution of histidine for arginine at codon 1236 [Arg1236His (R1236H)]; affected sibling; line PD20 hygro; complementation group D2; hygromycin resistant; immortalized fibroblast line; corrected version of this line is GM16634; uncorrected lymphoblast line is GM16756.

Publications

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Umansky C, Morellato AE, Rieckher M, Scheidegger MA, Martinefski MR, Fernández GA, Pak O, Kolesnikova K, Reingruber H, Bollini M, Crossan GP, Sommer N, Monge ME, Schumacher B, Pontel LB, Endogenous formaldehyde scavenges cellular glutathione resulting in redox disruption and cytotoxicity Nature communications13:745 2020
PubMed ID: 35136057
 
Castillo P, Bogliolo M, Surralles J, Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage DNA repair10:518-25 2010
PubMed ID: 21466974
 
Spardy N, Duensing A, Charles D, Haines N, Nakahara T, Lambert PF, Duensing S, The human papillomavirus type 16 E7 oncoprotein activates the Fanconi anemia (FA) pathway and causes accelerated chromosomal instability in FA cells Journal of virology81:13265-70 2007
PubMed ID: 17898070

External Links

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dbSNP dbSNP ID: 16951
Gene Cards FANCD2
Gene Ontology GO:0000004 biological_process unknown
GO:0005554 molecular_function unknown
GO:0008372 cellular_component unknown
NCBI Gene Gene ID:2177
NCBI GTR 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
613984 FANCD2 GENE; FANCD2
OMIM 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
613984 FANCD2 GENE; FANCD2
Omim Description FACD
  FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD
  FANCONI PANCYTOPENIA, TYPE 4; FA4

Culture Protocols

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Passage Frozen 3
Split Ratio 1:7
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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