GM08889

GM08889 Fibroblast from Skin, Unspecified

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

19 FW (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Skin fibroblast culture; previously affected sib; pregnancy terminated following positive results for amniotic fluid intestinal microvillar enzymes & DNA RFLP analysis; donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (PHE508DEL) and a second allele carries a C-to-T substitution at nucleotide 3616 (3616C>T) which converts the arg-1162 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 19 in the CFTR gene [ARG1162TER (R1162X)]

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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

602421.0033; CYSTIC FIBROSIS

Identified Mutation

ARG1162TER (c.3484C>T); In a study of CF mutations in south European cases, Gasparini et al. [Genomics 10: 193-200 (1991)] found a nonsense mutation in exon 19 due to a C-to-T substitution... The normal codon CGA, which codes for arginine at position 1162, was changed to a stop codon UGA (R1162X).