Description:
CYSTIC FIBROSIS; CF
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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 |
| Alternate IDs |
GM17105 [CYSTIC FIBROSIS; CF] |
| 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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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8
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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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: 1,2 1,1 2,3 1,2 1,1 1,2 2,2 1,1 2,2 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 positive result with a primer for Yq11, DYS227. |
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| Remarks |
Clinically normal; 3 affected children; negative for the F508, G551D, R553X, G542X, and N1303K mutations |
| Treff NR, Su J, Tao X, Miller KA, Levy B, Scott RT, A novel single-cell DNA fingerprinting method successfully distinguishes sibling human embryos Fertility and sterility94:477-84 2009 |
| PubMed ID: 19394599 |
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| Matsuzaki H, Dong S, Loi H, Di X, Liu G, Hubbell E, Law J, Berntsen T, Chadha M, Hui H, Yang G, Kennedy GC, Webster TA, Cawley S, Walsh PS, Jones KW, Fodor SP, Mei R, Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods1(2):109-11 2004 |
| PubMed ID: 15782172 |
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| 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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