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GM11283 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks ALA455GLU (A455E)/F508 [PHE508DEL]; Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/deletion of Phe at amino acid 508 in exon 10; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

Characterizations

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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
 
CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES Cystic fibrosis gene alleles are A455E & F508: Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9) & deletion of Phe at amino acid 508 in exon 10.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR The CFTR gene mutation data for this repository number was verified by sequencing.
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0007; CYSTIC FIBROSIS
Identified Mutation ALA455GLU; A C-to-A change in nucleotide 1496 in exon 9 leads to substitution of glutamic acid for alanine at position 455 (A455E).
 
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).

Phenotypic Data

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Remarks ALA455GLU (A455E)/F508 [PHE508DEL]; Ala>Glu at amino acid 455 (C>A at nucleotide 1496 in exon 9)/deletion of Phe at amino acid 508 in exon 10; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 9T/9T

Publications

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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
 
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
 
Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, et al, Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A87:8447-51 1990
PubMed ID: 2236053
 
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC, Identification of the cystic fibrosis gene: genetic analysis. Science245:1073-80 1989
PubMed ID: 2570460

External Links

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dbSNP dbSNP ID: 11521
Gene Cards CFTR
Gene Ontology GO:0005216 ion channel activity
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity
GO:0005260 channel-conductance-controlling ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006811 ion transport
GO:0007585 respiratory gaseous exchange
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030165 PDZ domain binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
NCBI Gene Gene ID:1080
NCBI GTR 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
OMIM 219700 CYSTIC FIBROSIS; CF
602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
Omim Description CYSTIC FIBROSIS; CF
  MUCOVISCIDOSIS

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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