GM03465

GM03465 Fibroblast from Heart, Pericardium

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

Biopsy Source

Pericardium

Cell Type

Fibroblast

Tissue Type

Heart

Transformant

Untransformed

Sample Source

Fibroblast from Heart, Pericardium

Race

White

Family Member

Relation to Proband

proband

Confirmation

Biochemical characterization - other

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

Pericardium biopsy; has 2 affected sibs; first diagnosed by sweat test at age 10 weeks; pulmonary and hepatic cirrhosis; expired at age 4; 46,XY; same patient as GM03466; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508Del) and a second allele carries a G-to-A transition at nucleotide 1784 (1784G>A) which converts the gly-551 codon (GGT) to an asp (GAT), resulting in a missense mutation in exon 11 in the CFTR gene [Gly551Asp (G551D)]

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

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

602421.0013; CYSTIC FIBROSIS

Identified Mutation

GLY551ASP; A G-to-A change in nucleotide 1784 in exon 11 is responsible for substitution of aspartic acid for glycine at amino acid 551 (G551D) [Cutting et al., New. Eng. J. Med. 323: 1685-1689 (1990)].