GM02828

GM02828 Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

26 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

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Advanced pulmonary involvement; pneumothorax; no pancreatic insufficiency; a sib died of CF in early infancy with meconium ileus; passage 4 at CCR; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a G-to-T transition at nucleotide 1690 (1690G>T) which converts the Val-520 codon (GTC) to a Phe (TTC), resulting in a missense mutation in exon 10 in the CFTR gene [Val520Phe (V520F)]

Characterizations

PDL at Freeze

5.22

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

602421.0046; CYSTIC FIBROSIS

Identified Mutation

VAL520PHE; In a patient with CF, Jones et al. [Hum. Molec. Genet. 1: 11-17 (1992)] used the chemical cleavage mismatch technique to demonstrate a V520F mutation which resulted from a G-to-T transversion at nucleotide 1690.