NA00768
DNA from Fibroblast
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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Molecular characterization - other
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ISCN
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46,XY
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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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| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
| Remarks |
Mild; no pancreatic insufficiency; first diagnosed at age 4 months; a sib died from CF at age 10; see GM00897 Lymphoid; 46, XY; 4% of cells show random chromosome loss; 1 allele has the F508 deletion mutation [Phe508DEL] |
| Wooten MW, Rudick VL, Rudick MJ, Higgins ML, The effects of proteins secreted by fibroblasts from patients with cystic fibrosis on hamster tracheal explants. In Vitro Cell Dev Biol21:207-15 1985 |
| PubMed ID: 4008434 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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| Willcox P, Secretion of beta-N-acetylglucosaminidase isoenzymes by cultured cystic fibrosis fibroblasts. Clin Chim Acta91:81-9 1979 |
| PubMed ID: 761396 |
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