NA02801

NA02801 DNA from Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

15 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Quantity

50 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Nasal

Cell Type

Fibroblast

Tissue Type

Polyp

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Relation to Proband

proband

Confirmation

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Biopsy from nasal polyp; pancreatic insufficiency; elevated sweat electrolytes; 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).