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GM08338 LCL from B-Lymphocyte

Description:

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

Affected:

No Data

Sex:

Male

Age:

39 YR (At Sampling)

  • 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
Family Member 8
Relation to Proband in-law
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Spouse of GM08337; 1 affected daughter; heterozygous for the GLY551ASP (G551D) mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/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 PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 1,2 1,1 2,3 1,2 1,2 1,2 2,2 1,1 2,2 Heterozygous for G551D mutation. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX.
 
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 602421.0013; 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)].

Phenotypic Data

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Remarks Spouse of GM08337; 1 affected daughter; heterozygous for the GLY551ASP (G551D) mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/9T

Publications

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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
 
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
 
Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986
PubMed ID: 2879439

External Links

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dbSNP dbSNP ID: 11106
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%
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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