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
Race Caucasian
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Biochemical characterization - other
Species Homo sapiens
Common Name Human
Remarks Clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708; induced pluripotent stem cell is GM24683.
Passage Frozen 14
 
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 602421.0001; CYSTIC FIBROSIS
Identified Mutation PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).
Remark Clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708; induced pluripotent stem cell is GM24683.
Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981
PubMed ID: 6170925
View pedigree 
Passage Frozen 14
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA