GM11472

GM11472 LCL from B-Lymphocyte

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

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

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

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

Remarks

Publications

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