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GM16756 LCL from B-Lymphocyte

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 Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; line PD20.L; complementation group D2; 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; corrected version of this line is GM16634; immortalized fibroblast line is GM16633.

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 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; line PD20.L; complementation group D2; 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; corrected version of this line is GM16634; immortalized fibroblast line is GM16633.

Publications

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Olazabal-Herrero A, He B, Kwon Y, Gupta AK, Dutta A, Huang Y, Boddu P, Liang Z, Liang F, Teng Y, Lan L, Chen X, Pei H, Pillai MM, Sung P, Kupfer GM, The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export Cell reports43:113610 2022
PubMed ID: 38165804
 
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 cytometry43:113610 2020
PubMed ID: 32857894
 
Oppezzo A, Bourseguin J, Renaud E, Pawlikowska P, Rosselli F, Microphthalmia transcription factor expression contributes to bone marrow failure in Fanconi anemia The Journal of clinical investigation43:113610 2019
PubMed ID: 31877112
 
Liang Z, Liang F, Teng Y, Chen X, Liu J, Longerich S, Rao T, Green AM, Collins NB, Xiong Y, Lan L, Sung P, Kupfer GM, Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination Cell reports26:564-572.e5 2018
PubMed ID: 30650351
 
Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M, Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nat Genet11:341-3 1995
PubMed ID: 7581463

External Links

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dbSNP dbSNP ID: 16112
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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Split Ratio 1:5
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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