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NA11472 DNA from LCL

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)

Affected:

Yes

Sex:

Male

Age:

21 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Positive sweat tests; typical clinical findings; CFTR genotype is GLY1349ASP (G1349D)/ASN1303LYS (N1303K); analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

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.
 
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR The CFTR gene mutation data for this repository number was verified by sequencing.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 G1349D; CYSTIC FIBROSIS
Identified Mutation GLY1349ASP; A G to A transition at nucleotide 4178 (G4178A) converts the gly-1349 codon (GGC) to asp (GAC), resulting in a missense mutation [GLY1349ASP (G1349D)] in exon 22. Logan et al. [J Clin Invest 94: 228-236 (1994)] reported that this mutation in the CFTR second nucleotide binding domain led to decreased nucleotide binding by CFTR nucleotide binding domains.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 602421.0032; CYSTIC FIBROSIS
Identified Mutation ASN1303LYS; Osborne et al. [Am. J. Hum. Genet. 48: 608-612 (1991)] reported a C-to-G change at nucleotide 4041 resulting in a change from asparagine to lysine at amino acid position 1303 (N1303K).

Phenotypic Data

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Remarks Positive sweat tests; typical clinical findings; CFTR genotype is GLY1349ASP (G1349D)/ASN1303LYS (N1303K); analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

Publications

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May JP, Brown LJ, van Delft I, Thelwell N, Harley K, Brown T, Synthesis and evaluation of a new non-fluorescent quencher in fluorogenic oligonucleotide probes for real-time PCR Organic & biomolecular chemistry3:2534-42 2005
PubMed ID: 15999185
 
Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004
PubMed ID: 15507674
 
Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004
PubMed ID: 14709668
 
Solinas A, Brown LJ, McKeen C, Mellor JM, Nicol J, Thelwell N, Brown T, Duplex Scorpion primers in SNP analysis and FRET applications. Nucleic Acids Res29(20):E96 2001
PubMed ID: 11600715
 
Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000
PubMed ID: 10973900
 
Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M, Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics99(6):819-24 1997
PubMed ID: 9164776

External Links

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dbSNP dbSNP ID: 11590
Gene Cards CFTR
Gene Ontology GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene Gene ID:1080
NCBI GTR 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
OMIM 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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