GM13033
LCL from B-Lymphocyte
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 |
| Alternate IDs |
GM17298 [CYSTIC FIBROSIS; CF] |
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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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LCL from B-Lymphocyte
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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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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 TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0025; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508CYS; This mutation was found by Kobayashi et al. [Am. J. Hum. Genet. 47: 611-615 (1990)] in two compound heterozygote with delta-F508 (602421.0001). Clinical and epithelial physiologic studies yielded normal results, indicating that the F508C mutation is benign. However, Dork et al. [Hum Genet 100: 365-377 (1997)] have proposed that this missense alteration may be associated with CBAVD. |
| Remarks |
Clinically unaffected; benign missense variation, PHE508CYS (F508C), in CFTR; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T |
| Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005 |
| PubMed ID: 16191501 |
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| Zhou L, Wang L, Palais R, Pryor R, Wittwer CT, High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem51(10):1770-7 2005 |
| PubMed ID: 16189378 |
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| Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004 |
| PubMed ID: 15507674 |
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| Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004 |
| PubMed ID: 14709668 |
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| Jenison R, La H, Haeberli A, Ostroff R, Polisky B, Silicon-based biosensors for rapid detection of protein or nucleic acid targets. Clin Chem47(10):1894-900 2001 |
| PubMed ID: 11568116 |
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| Kobayashi K, Knowles MR, Boucher RC, O'Brien WE, Beaudet AL, Benign missense variations in the cystic fibrosis gene [see comments] Am J Hum Genet47:611-5 1990 |
| PubMed ID: 1977306 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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