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GM01899 LCL from B-Lymphocyte

Description:

LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT

Affected:

Yes

Sex:

Male

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 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
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks HLA type A2,A11,B18,B5(Bw35); lymphoid culture is nonviable in HAT medium; the 5'-most 17 bases of exon 9 are deleted in HPRT cDNA

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 MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
MUTATION VERIFICATION Gibbs et al (Proc Natl Acad Sci USA 86:1919-1923 1989) reported that HPRT cDNA from this Lesch-Nyhan syndrome cell culture lacked the 5 prime most 17 bases of exon 9.
 
IMMUNOGLOBULIN PRODUCTION Lymphoid Culture Secretes IgG
 
Gene HPRT1
Chromosomal Location Xq26-q27.2
Allelic Variant 1 308000.0043; LESCH-NYHAN SYNDROME
Identified Mutation EX9DEL; In cell line GM3467 from a patient with LNS, Yang et al. (1984) and Gibbs et al. (1990) demonstrated deletion of exon 9. No mRNA was demonstrable.

Phenotypic Data

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Remarks HLA type A2,A11,B18,B5(Bw35); lymphoid culture is nonviable in HAT medium; the 5'-most 17 bases of exon 9 are deleted in HPRT cDNA

Publications

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Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee and Inho ParkEmail, DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data BMC Bioinformatics19: 2018
PubMed ID: 30326846
 
Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR, Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet7:189-94 1994
PubMed ID: 7920640
 
Gibbs RA, Nguyen PN, McBride LJ, Koepf SM, Caskey CT, Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A86:1919-23 1989
PubMed ID: 2928313

External Links

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dbSNP dbSNP ID: 10459
Gene Cards HPRT
HPRT1
Gene Ontology GO:0000287 magnesium ion binding
GO:0004422 hypoxanthine phosphoribosyltransferase activity
GO:0005737 cytoplasm
GO:0006166 purine ribonucleoside salvage
GO:0007610 behavior
GO:0009116 nucleoside metabolism
GO:0016757 transferase activity, transferring glycosyl groups
NCBI Gene Gene ID:3251
NCBI GTR 300322 LESCH-NYHAN SYNDROME; LNS
308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
OMIM 300322 LESCH-NYHAN SYNDROME; LNS
308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
Omim Description LESCH-NYHAN SYNDROME; LNS

Culture Protocols

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Split Ratio 1:4
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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How to Order
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