Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases GeT-RM Samples |
Class |
Other Disorders of Known Biochemistry |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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
|
Relation to Proband
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proband
|
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 |
|
CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Cystic fibrosis gene alleles are P574H & F508: Pro>His at amino acid 574 (C>A at nucleotide 1853 in exon 12) & deletion of Phe at amino acid 508 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. |
|
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
|
Gene |
CFTR |
Chromosomal Location |
7q31.2 |
Allelic Variant 1 |
602421.0018; CYSTIC FIBROSIS |
Identified Mutation |
PRO574HIS; A C-to-A change in nucleotide 1853 in exon 12 is responsible for substitution of histidine for proline at amino acid 574 (P574H) [Kerem et al., Proc. Natl. Acad. Sci. USA 87: 8447-8451 (1990)]. |
|
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). |
Remarks |
PRO574HIS (P574H)/F508 [PHE508DEL]; Pro>His at amino acid 574 (C>A at nucleotide 1853 in exon 12)/deletion of Phe at amino acid 508 in exon 10 |
Pratt VM, Caggana M, Bridges C, Buller AM, Diantonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV, Development of genomic reference materials for cystic fibrosis genetic testing The Journal of molecular diagnostics : JMD11:186-93 2009 |
PubMed ID: 19359498 |
|
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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Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC, Identification of the cystic fibrosis gene: genetic analysis. Science245:1073-80 1989 |
PubMed ID: 2570460 |
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