Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
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