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 |
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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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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,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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| 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). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0013; CYSTIC FIBROSIS |
| Identified Mutation |
GLY551ASP; A G-to-A change in nucleotide 1784 in exon 11 is responsible for substitution of aspartic acid for glycine at amino acid 551 (G551D) [Cutting et al., New. Eng. J. Med. 323: 1685-1689 (1990)]. |
| Remarks |
Donor subject is a compound heterozygote: one allele carries the deltaF508 deletion mutation (Phe508DEL) and a second allele carries a G-to-A transition at nucleotide 1784 (G1784A) which converts the gly-551 codon (GGT) to an asp (GAT), resulting in a missense mutation in exon11 in the CFTR gene [Gly551Asp (G551D)] |
| 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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| 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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| 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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| Forrest GL, Colchicine binding activity and tyrosyl tubulin ligase activity in normal and cystic fibrosis fibroblasts. Biochem Biophys Res Commun98:324-9 1981 |
| PubMed ID: 7213390 |
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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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| Christian ST, Monti JA, Finley WH, Membrane fluidity in normal and cystic fibrosis fibroblasts. Biochem Biophys Res Commun79:966-72 1977 |
| PubMed ID: 597319 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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