NA01014

NA01014 DNA from Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Quantity

10 µg

Quantitation Method

Please see our FAQ

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Country of Origin

USA

Family Member

Relation to Proband

proband

Confirmation

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708; induced pluripotent stem cell is GM24683.

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Phenotypic Data

Remarks

Publications

Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981

PubMed ID: 6170925

External Links

dbSNP

dbSNP ID: 17511

Gene Cards

CFTR

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

Gene ID:1080

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

Images

View

pedigree

Pricing

International/Commercial/For-profit:

$281.00USD

U.S. Academic/Non-profit/Government:

$139.00USD

Description:

CYSTIC FIBROSIS; CF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Publications

External Links

Images

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR