| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| MUTATION VERIFICATION |
The CFTR mutations in this cell line have been verified by 4 laboratories. Methods used for mutation identification include: Innogenetics INNO_LIPA CFTR 36 (multiplex PCR); Innogenetics reverse line probe assay; MALDI-TOF mass spectrometry (51 mutation panel); sequencing of entire coding region and splice junction sites. |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
; CYSTIC FIBROSIS |
| Identified Mutation |
2143delT |
| |
| 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). |