Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
6 |
|
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). |
Remarks |
Affected; diagnosed at age 3 months; pancreatic insufficiency; similarly affected sib; defective fibroblast cAMP-stimulated Cl channel; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL). |
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 |
|
Reiner EJ, Moran TF, High-performance pyrolysis-gas chromatography: potential for differentiating cystic fibrosis cells. J Chromatogr221:371-6 1980 |
PubMed ID: 7217305 |
Passage Frozen |
6 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|