NA01348
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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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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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 |
6 |
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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 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). |
| |
| 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 |
Severe; first diagnosed at age 7; expired at age 18; 46,XX; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL) |
| Wong AP, Shojaie S, Liang Q, Xia S, Di Paola M, Ahmadi S, Bilodeau C, Garner J, Post M, Duchesneau P, Waddell TK, Bear CE, Nagy A, Rossant J, Conversion of human and mouse fibroblasts into lung-like epithelial cells Scientific reports9:9027 2019 |
| PubMed ID: 31227724 |
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| Bozon D, Tarentino AL, Trimble RB, Maley F, Characterization of cellular oligosaccharides from normal and cystic fibrotic fibroblasts using sequential endoglycosidase digestions. Arch Biochem Biophys249:546-56 1986 |
| PubMed ID: 3092742 |
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| Myerowitz R, Piekarz R, Neufeld EF, Shows TB, Suzuki K, Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A82:7830-4 1985 |
| PubMed ID: 2933746 |
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| 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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| Myerowitz R, Proia RL, cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts. Proc Natl Acad Sci U S A81:5394-8 1984 |
| PubMed ID: 6236461 |
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| Anderson PJ, Actin and tubulin in normal and cystic fibrosis fibroblasts. Biochem Biophys Res Commun108:182-5 1982 |
| PubMed ID: 7150280 |
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| Hohmann P, Species- and cell-specific expression of H1 histones in tissue culture cells. Arch Biochem Biophys205:198-209 1980 |
| PubMed ID: 7447476 |
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| Butterworth J, Duncan JJ, Carboxypeptidase B activity of cultured skin fibroblasts and relationship to cystic fibrosis. Clin Chim Acta97:39-43 1979 |
| PubMed ID: 40714 |
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