| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| MUTATION VERIFICATION |
The CFTR mutations in this cell line have been verified by 9 laboratories. Methods used for mutation identification include: Innogenetics INNO_LIPA CFTR 36 (multiplex PCR); Innogenetics reverse line probe assay; Celera/Abbott CF V3 oligonucleotide ligation assay; MALDI-TOF mass spectrometry (51 mutation panel); Invader analyte specific reagents; CF29/CF30 Elucigene kit; sequencing of entire coding region and splice junction sites. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
; CYSTIC FIBROSIS |
| Identified Mutation |
2184delA |
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| 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). |