GM01707

GM01707 Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Confirmed by dexamethasone resistance; formerly GM01008; the donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

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

Confirmed by dexamethasone resistance; formerly GM01008; the donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL)

Publications

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

PubMed ID: 6170925

Butterworth J, Duncan JJ, Carboxypeptidase B activity of cultured skin fibroblasts and relationship to cystic fibrosis. Clin Chim Acta97:39-43 1979

PubMed ID: 40714

External Links

dbSNP

dbSNP ID: 22736

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

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD

Description:

CYSTIC FIBROSIS; CF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

Publications

External Links

Culture Protocols

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR