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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Family Member
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5
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Relation to Proband
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mother
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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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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 2,2 1,2 2,3 1,2 2,2 1,2 1,2 1,1 1,2 Negative for F508, G551D, R553X, G542X, and N1303K mutations. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. |
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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 |
602421.0042; CYSTIC FIBROSIS |
| Identified Mutation |
1-BP DEL, 556A DEL, FS; Zielenski et al. (1991) identified an exon 4 mutation that created a new BglI site, a frameshift due to deletion of nucleotide 556, an A.
|
| Remarks |
Clinically normal; 3 affected children; positive for 556delA mutation |
| Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986 |
| PubMed ID: 2879439 |
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| Tsui LC, Buetow K, Buchwald M, Genetic analysis of cystic fibrosis using linked DNA markers. Am J Hum Genet39:720-8 1986 |
| PubMed ID: 3467587 |
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| White R, Leppert M, O'Connell P, Nakamura Y, Woodward S, Hoff M, Herbst J, Dean M, Vande Woude G, Lathrop GM, et al, Further linkage data on cystic fibrosis: the Utah Study. Am J Hum Genet39:694-8 1986 |
| PubMed ID: 2879438 |
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