GM11290

GM11290 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

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

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

ALA455GLU (A455E)/621+1 G>T; Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/ splice mutation G>T at nucleotide 621+1 in intron 4; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

IDENTIFICATION OF SPECIES OF ORIGIN

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

CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES

Cystic fibrosis gene alleles are A455E & 621+1 G>T: Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9) & splice mutation G>T at nucleotide 621+1 in intron 4.

CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES

Cystic fibrosis gene alleles are A455E & 621+1 G>T: Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9) & splice mutation G>T at nucleotide 621+1 in intron 4.

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

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

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

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

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0007; CYSTIC FIBROSIS

Identified Mutation

ALA455GLU; A C-to-A change in nucleotide 1496 in exon 9 leads to substitution of glutamic acid for alanine at position 455 (A455E).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0007; CYSTIC FIBROSIS

Identified Mutation

ALA455GLU; A C-to-A change in nucleotide 1496 in exon 9 leads to substitution of glutamic acid for alanine at position 455 (A455E).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

mRNA splicing defect; CYSTIC FIBROSIS

Identified Mutation

621+1G>T

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

mRNA splicing defect; CYSTIC FIBROSIS

Identified Mutation

621+1G>T

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

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

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

Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al, Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A87:8447-51 1990

PubMed ID: 2236053