Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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parent
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Cystic fibrosis gene alleles are 1 normal allele & 1 with I507 deletion mutation of Ile at amino acid 506/507 in exon 10. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0002; CYSTIC FIBROSIS |
| Identified Mutation |
ILE507DEL; Deletion of isoleucine at either position 506 or 507 is the result of deletion of 3 bp (delta-I507). |
| Remarks |
Heterozygote; 2 affected children; I507 [ILE507DEL] deletion mutation of Ile at amino acid 506/507 in exon 10; 46,XY; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T |
| Leung ML, Watson DJ, Vaccaro CN, Mafra F, Wenocur A, Wang T, Hakonarson H, Santani A, Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel Scientific data7:8 2019 |
| PubMed ID: 31913291 |
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| Lee HK, Lewis LD, Tsongalis GJ, Schur BC, Jannetto PJ, Wong SH, Yeo KT, Validation of a CYP2D6 genotyping panel on the NanoChip Molecular Biology Workstation Clinical chemistry53:823-8 2007 |
| PubMed ID: 17363417 |
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| Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005 |
| PubMed ID: 16191501 |
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| Zhou L, Wang L, Palais R, Pryor R, Wittwer CT, High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem51(10):1770-7 2005 |
| PubMed ID: 16189378 |
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| Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004 |
| PubMed ID: 15507674 |
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| Leonard JC, Mullinger AM, Schmidt J, Cordell HJ, Johnson RT, Genome instability in ataxia telangiectasia (A-T) families: camptothecin-induced damage to replicating DNA discriminates between obligate A-T heterozygotes, A-T homozygotes and controls. Biosci Rep24(6):617-29 2004 |
| PubMed ID: 16158199 |
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| Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004 |
| PubMed ID: 14709668 |
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| Gundry CN, Vandersteen JG, Reed GH, Pryor RJ, Chen J, Wittwer CT, Amplicon melting analysis with labeled primers: a closed-tube method for differentiating homozygotes and heterozygotes. Clin Chem49(3):396-406 2003 |
| PubMed ID: 12600951 |
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| Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ, High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem49(6 Pt 1):853-60 2003 |
| PubMed ID: 12765979 |
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| Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000 |
| PubMed ID: 10973900 |
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| Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M, Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics99(6):819-24 1997 |
| PubMed ID: 9164776 |
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| Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al, Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A87:8447-51 1990 |
| PubMed ID: 2236053 |
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