| 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 Y122X CFTR mutation in this cell line has been verified by 4 laboratories. Methods used for mutation identification of Y122X include: MALDI-TOF mass spectrometry (51 mutation panel); Invader analyte specific reagents; CF29/CF30 Elucigene kit; sequencing of entire coding region and splice junction sites. The A209S and R1158X CFTR mutations in this cell line were identified by one laboratory through sequencing of the entire coding region and splice junction sites. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
Y122X; CYSTIC FIBROSIS |
| Identified Mutation |
TYR122TER |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0039; CYSTIC FIBROSIS |
| Identified Mutation |
ARG1158TER; In an Italian CF patient known to be a genetic compound, Ronchetto et al. (1992) found a C-to-T transition at nucleotide 3604, which changed an arginine residue at position 1158 to a stop codon (R1158X). The patient carried an unknown mutation on the other chromosome and was pancreatic sufficient.
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