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GM16635 Fibroblast from Skin, Unspecified

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9

Affected:

Yes

Sex:

Female

Age:

10 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 SV40 plasmid vector pSV7
Sample Source Fibroblast from Skin, Unspecified
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 73~77,XXX,t(1;15)(1pter->1p10::15q10->15qter;1qter->1q10::15p10->15pter),-2,add(2)(?::p25->qter),+3,-4,add(4)(?::p14->qter),del(4)(q31.3::),-5,-7,add(7)(?::p15->qter), add(11)(pter->q11.2::?),+12,add(12)(?::p12->qter),add(13)(?::p11.1->qter),+14,-15,-16,+17,-18,-22,+7~9mar[cp4]*
Species Homo sapiens
Common Name Human
Remarks Clinically affected; line PD352.T; complementation group G; pSV7 transformed fibroblast (PD352.F) (method described in Jacobs et al Somatic Cell Mol Genet 22:151-157, 1996); immortalized cell line (>200 population doublings); radial anomalies; café au lait spots; skin pigmentation; thrombocytopenia at age 9; chromosomal hypersensitivity to mitomycin D and diepoxybutane; transfection of FANC G gene, but not FANC A or C genes, corrects hypersensitive cell phenotype.

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
 

Phenotypic Data

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Remarks Clinically affected; line PD352.T; complementation group G; pSV7 transformed fibroblast (PD352.F) (method described in Jacobs et al Somatic Cell Mol Genet 22:151-157, 1996); immortalized cell line (>200 population doublings); radial anomalies; café au lait spots; skin pigmentation; thrombocytopenia at age 9; chromosomal hypersensitivity to mitomycin D and diepoxybutane; transfection of FANC G gene, but not FANC A or C genes, corrects hypersensitive cell phenotype.

Publications

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Wang R, Lenoir WF, Wang C, Su D, McLaughlin M, Hu Q, Shen X, Tian Y, Klages-Mundt N, Lynn E, Wood RD, Chen J, Hart T, Li L, DNA polymerase ? compensates for Fanconi anemia pathway deficiency by countering DNA replication stress Proceedings of the National Academy of Sciences of the United States of America117:33436-33445 2021
PubMed ID: 33376220
 
Jakobs PM, Sahaayaruban P, Saito H, Reifsteck C, Olson S, Joenje H, Moses RE, Grompe M, Immortalization of four new Fanconi anemia fibroblast cell lines by an improved procedure. Somat Cell Mol Genet22(2):151-7 1996
PubMed ID: 8782494

External Links

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dbSNP dbSNP ID: 21142
Gene Cards FANCG
XRCC9
Gene Ontology GO:0000075 cell cycle checkpoint
GO:0003684 damaged DNA binding
GO:0005634 nucleus
GO:0006281 DNA repair
NCBI Gene Gene ID:2189
NCBI GTR 602956 FANCG GENE; FANCG
614082 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
OMIM 602956 FANCG GENE; FANCG
614082 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG

Culture Protocols

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Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Medium MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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