CD00012

CD00012 DNA from LCL

Description:

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
CYSTIC FIBROSIS; CF

Affected:

No Data

Sex:

Female

Age:

No Data

Overview

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Repository

Centers for Disease Control and Prevention Repository

Class

Other Disorders of Known Biochemistry

Quantity

10ug

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from LCL

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Donor subject has one allele with a T>C transition at nucleoside 575 in exon 4 of the CFTR gene (575T>C) causing a substitution of threonine for isoleucine at codon 148 [Ile148Thr (I148T)]; a second allele tested negative for the S1235R mutation and the mutations represented in the ACMG Core Mutation Panel; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract within the splice acceptor site in intron 8) showed this donor to have an IVS8-T allele status of 7T/9T

Characterizations

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Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

I148T; CYSTIC FIBROSIS

Identified Mutation

ILE148THR

Phenotypic Data

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Remarks

Donor subject has one allele with a T>C transition at nucleoside 575 in exon 4 of the CFTR gene (575T>C) causing a substitution of threonine for isoleucine at codon 148 [Ile148Thr (I148T)]; a second allele tested negative for the S1235R mutation and the mutations represented in the ACMG Core Mutation Panel; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract within the splice acceptor site in intron 8) showed this donor to have an IVS8-T allele status of 7T/9T

External Links

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dbSNP

dbSNP ID: 15810

Gene Cards

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

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 TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Culture Protocols

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Supplement

-

Pricing

Commercial:

$225.00USD

Academic &
Non-profit:

$114.00USD