NA00997

NA00997 DNA from Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

10 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

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Country of Origin

USA

Relation to Proband

proband

Confirmation

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Diagnosed at age 7 months; negative family history for CF; sweat chloride: 120 meq/ L; on enzyme replacements; expired at age 11; defective fibroblast cAMP-stimulated Cl-channel; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL).

Characterizations

PDL at Freeze

3.9

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.

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

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Phenotypic Data

Remarks

Publications

Wong AP, Shojaie S, Liang Q, Xia S, Di Paola M, Ahmadi S, Bilodeau C, Garner J, Post M, Duchesneau P, Waddell TK, Bear CE, Nagy A, Rossant J, Conversion of human and mouse fibroblasts into lung-like epithelial cells Scientific reports9:9027 2019

PubMed ID: 31227724

Lin PY, Gruenstein E, Identification of a defective cAMP-stimulated Cl- channel in cystic fibrosis fibroblasts. J Biol Chem262:15345-7 1987

PubMed ID: 2445735

Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981

PubMed ID: 6170925