GM12895

GM12895 LCL from B-Lymphocyte

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

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

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

Culture Protocols

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Split Ratio

1:5

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

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD