NA00504

NA00504 DNA from LCL

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

Overview

back to top

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

Family Member

1

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay; metachromasia positive; donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 [Gly542TER (G542X)] and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg, resulting in a missense mutation in exon 13 in the CFTR gene [His609Arg (H609R)]; same as GM01530.

Characterizations

back to top

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES

Neither allele shows the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication).

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

H609R; CYSTIC FIBROSIS

Identified Mutation

HIS609ARG

Phenotypic Data

back to top

Remarks

Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay; metachromasia positive; donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 [Gly542TER (G542X)] and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg, resulting in a missense mutation in exon 13 in the CFTR gene [His609Arg (H609R)]; same as GM01530.

External Links

back to top

dbSNP

dbSNP ID: 10341

Gene Cards

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

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

Commercial/For-profit:

$281.00USD

Academic/Non-profit/Government:

$139.00USD