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NA00504 DNA from LCL

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay; metachromasia positive; donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 [Gly542TER (G542X)] and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg, resulting in a missense mutation in exon 13 in the CFTR gene [His609Arg (H609R)]; same as GM01530.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES Neither allele shows the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 1 602421.0009; CYSTIC FIBROSIS
Identified Mutation GLY542TER; A G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 (G542X).
 
Gene CFTR
Chromosomal Location 7q31.2
Allelic Variant 2 H609R; CYSTIC FIBROSIS
Identified Mutation HIS609ARG

Phenotypic Data

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Remarks Cell free supernatant produces ciliary dyskinesis factor in rabbit bioassay; metachromasia positive; donor subject is a compound heterozygote: one allele carries a G-to-T substitution at nucleotide 1756 (1756G>T) which converts the gly-542 codon (GGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 11 [Gly542TER (G542X)] and a second allele carries an A-to-G substitution at nucleotide 1958 (1958A>G) which converts the his-609 codon to an arg, resulting in a missense mutation in exon 13 in the CFTR gene [His609Arg (H609R)]; same as GM01530.

External Links

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dbSNP dbSNP ID: 10341
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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