Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
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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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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| 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 A455E & 621+1 G>T: Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9) & splice mutation G>T at nucleotide 621+1 in intron 4. |
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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Cystic fibrosis gene alleles are A455E & 621+1 G>T: Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9) & splice mutation G>T at nucleotide 621+1 in intron 4. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0007; CYSTIC FIBROSIS |
| Identified Mutation |
ALA455GLU; A C-to-A change in nucleotide 1496 in exon 9 leads to substitution of glutamic acid for alanine at position 455 (A455E). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0007; CYSTIC FIBROSIS |
| Identified Mutation |
ALA455GLU; A C-to-A change in nucleotide 1496 in exon 9 leads to substitution of glutamic acid for alanine at position 455 (A455E). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
mRNA splicing defect; CYSTIC FIBROSIS |
| Identified Mutation |
621+1G>T |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
mRNA splicing defect; CYSTIC FIBROSIS |
| Identified Mutation |
621+1G>T |
| Remarks |
ALA455GLU (A455E)/621+1 G>T; Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/ splice mutation G>T at nucleotide 621+1 in intron 4; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T |
| 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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| 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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| 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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| 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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| 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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