NA03466

NA03466 DNA from Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

4 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

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Family Member

Relation to Proband

proband

Confirmation

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Skin biopsy; has 2 affected sibs; first diagnosed by sweat test at age 10 weeks; pulmonary and hepatic cirrhosis; expired at age 4; same patient as GM03465; defective fibroblast cAMP-stimulated Cl channel

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

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.