GM18802

GM18802 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Uncertain Biochemical Etiology

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

CZECH

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Czechoslovakian; clinically affected with classical form of cystic fibrosis; the donor subject is heterozygous: one allele carries an T-to-A substitution at nucleotide 498 (T498A) in exon 4 of the CFTR gene, resulting in a nonsense mutation in codon 122 [TYR122TER (Y122X)]; the other allele carries an R1158X nonsense mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

MUTATION VERIFICATION

The Y122X CFTR mutation in this cell line has been verified by 4 laboratories. Methods used for mutation identification of Y122X include: MALDI-TOF mass spectrometry (51 mutation panel); Invader analyte specific reagents; CF29/CF30 Elucigene kit; sequencing of entire coding region and splice junction sites. The A209S and R1158X CFTR mutations in this cell line were identified by one laboratory through sequencing of the entire coding region and splice junction sites.

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

Y122X; CYSTIC FIBROSIS

Identified Mutation

TYR122TER

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0039; CYSTIC FIBROSIS

Identified Mutation

ARG1158TER; In an Italian CF patient known to be a genetic compound, Ronchetto et al. (1992) found a C-to-T transition at nucleotide 3604, which changed an arginine residue at position 1158 to a stop codon (R1158X). The patient carried an unknown mutation on the other chromosome and was pancreatic sufficient.

Phenotypic Data

Remarks

Publications

Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005

PubMed ID: 16191501