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GM16755 Fibroblast

Description:

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Engineered Cell Cultures
Class Syndromes with Increased Chromosome Breakage
Cell Type Fibroblast
Transformant Untransformed
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; line PD331.F RV:FANNC puro; corrected line derived by retroviral infection of the line PD331.F (GM16754) complementation group C, with the gene that encodes FANCC.

Characterizations

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PDL at Freeze 4.97
Passage Frozen 21
 
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 PD331.F RV:FANNC puro; corrected line derived by retroviral infection of the line PD331.F (GM16754) complementation group C, with the gene that encodes FANCC.

External Links

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dbSNP dbSNP ID: 12381
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
OMIM 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
Omim Description FACC; FAC
  FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
  FANCONI PANCYTOPENIA, TYPE 3; FA3

Culture Protocols

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Passage Frozen 21
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium MEM (Eagle) Alpha Modification with nucleosides/Dulbecco Modified Eagles Medium (high glucose), 1:1 mixture with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate Gelatin
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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