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GM00467 LCL from B-Lymphocyte

Description:

LESCH-NYHAN SYNDROME; LNS

Affected:

No Data

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks HPRT mutation chemically induced in vitro with EMS; selectable with 8-azaguanine or 6-thioguanine

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 HPRT mutation chemically induced in vitro with EMS; selectable with 8-azaguanine or 6-thioguanine

Publications

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Chiorazzi N, Reeves WH, Description and partial characterization of a nucleolar RNA-associated autoantigen defined by a human monoclonal antibody. J Exp Med165:1172-87 1987
PubMed ID: 2435834
 
Rosen A, Klein G, UV light-induced immunoglobulin heavy-chain class switch in a human lymphoblastoid cell line. Nature306:189-90 1983
PubMed ID: 6417540
 
Chiorazzi N, Wasserman RL, Kunkel HG, Use of Epstein-Barr virus-transformed B cell lines for the generation of immunoglobulin-producing human B cell hybridomas. J Exp Med156:930-5 1982
PubMed ID: 6286839
 
Sato K, Slesinski RS, Littlefield JW, Chemical mutagenesis at the phosphoribosyltransferase locus in cultured human lymphoblasts. Proc Natl Acad Sci U S A69:1244-8 1972
PubMed ID: 4504337

External Links

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dbSNP dbSNP ID: 20614
NCBI GTR 300322 LESCH-NYHAN SYNDROME; LNS
OMIM 300322 LESCH-NYHAN SYNDROME; LNS
Omim Description LESCH-NYHAN SYNDROME; LNS

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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