GM11497

GM11497 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

No Data

Sex:

Male

Age:

No Data

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

Family Member

Relation to Proband

brother

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected; heterozygous for exon 11 GLY542TER (G542X) nonsense mutation

Characterizations

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0009; CYSTIC FIBROSIS

Identified Mutation

GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0009; CYSTIC FIBROSIS

Identified Mutation

GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X).

Phenotypic Data

Remarks

Clinically unaffected; heterozygous for exon 11 GLY542TER (G542X) nonsense mutation

Publications

Zhou L, Wang L, Palais R, Pryor R, Wittwer CT, High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem51(10):1770-7 2005

PubMed ID: 16189378

Yanagihara K, Mizuuchi K, Mismatch-targeted transposition of Mu: a new strategy to map genetic polymorphism. Proc Natl Acad Sci U S A99(17):11317-21 2002

PubMed ID: 12177413

Jenison R, La H, Haeberli A, Ostroff R, Polisky B, Silicon-based biosensors for rapid detection of protein or nucleic acid targets. Clin Chem47(10):1894-900 2001

PubMed ID: 11568116

Zhong XB, Lizardi PM, Huang XH, Bray-Ward PL, Ward DC, Visualization of oligonucleotide probes and point mutations in interphase nuclei and DNA fibers using rolling circle DNA amplification. Proc Natl Acad Sci U S A98(7):3940-5 2001

PubMed ID: 11274414

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

Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL, Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet42:217-26 1988

PubMed ID: 2893543