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 |
| 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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8
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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: 1,2 1,2 2,2 1,1 1,2 1,2 1,2 1,2 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 negative result with a primer for Yq11, DYS227. |
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| Remarks |
Clinically normal; 4 affected children; negative for F508, G551D, R553X, G542X, and N1303K mutations |
| Morris C, Courtay C, Geurts van Kessel A, ten Hoeve J, Heisterkamp N, Groffen J, Localization of a gamma-glutamyl-transferase-related gene family on chromosome 22. Hum Genet91:31-6 1993 |
| PubMed ID: 8095916 |
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| ten Hoeve J, Morris C, Poustka A, Groffen J, Heisterkamp N, Isolation of NotI sites from chromosome 22q11. Genomics18:588-97 1993 |
| PubMed ID: 7905853 |
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| Morris C, Heisterkamp N, Hao QL, Testa JR, Groffen J, The human tyrosine kinase gene (FER) maps to chromosome 5 and is deleted in myeloid leukemias with a del(5q). Cytogenet Cell Genet53:196-200 1990 |
| PubMed ID: 2209086 |
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| Naylor SL, Barnett DR, Buchanan JM, Latimer J, Wieder K, Marshall S, Gardner J, Denning CR, Gluckson M, Pinero R, et al, Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families. Am J Hum Genet39:707-12 1986 |
| PubMed ID: 3026173 |
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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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