NA12895

NA12895 DNA from LCL

Description:

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

No Data

Sex:

Male

Age:

41 YR (At Sampling)

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

Ethnicity

JEWISH

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Congenital absence of vas deferens; 1 allele has the F508 deletion mutation (PHE508DEL); the other allele tested negative for 16 CF mutations in the ABCC7 (CFTR) gene: deltaF508; G542X; W1282X; G551D; N1303K; R117H; 1717-1G>A; 3849+10C>T; deltaI507; R347P; R553X; R560T; S549N; 621+1G>T; M1101K; 3905insT.

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

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

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

Congenital absence of vas deferens; 1 allele has the F508 deletion mutation (PHE508DEL); the other allele tested negative for 16 CF mutations in the ABCC7 (CFTR) gene: deltaF508; G542X; W1282X; G551D; N1303K; R117H; 1717-1G>A; 3849+10C>T; deltaI507; R347P; R553X; R560T; S549N; 621+1G>T; M1101K; 3905insT.

External Links

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dbSNP

dbSNP ID: 11707

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

277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

OMIM

277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Omim Description

CAVD

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD