GM04339

GM04339 Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

24 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

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Advanced chronic pulmonary disease; no pancreatic involvement; elevated sweat electrolytes; a sib died at age 4 with meconium ileus; defective fibroblast cAMP-stimulated Cl- channel; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a G-to-A substitution at nucleotide 386 (386G>A) which converts the gly-85 codon (GGA) to a glu (GAA), resulting in a missense mutation in exon 3 in the CFTR gene [GLY85GLU (G85E)]

Characterizations

Passage Frozen

CHLORIDE TRANSPORT

Lin & Gruenstein (J Biol Chem 262:15345-15347,1987) reported that fibroblasts from this cystic fibrosis patient showed a defect in a cAMPactivated Cl- channel.

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