GM20741

GM20741 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

No

Sex:

Female

Age:

21 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

Class

Disorders of Uncertain Biochemical Etiology

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Subject is an unaffected carrier identified by routine carrier screening; donor is heterozygous for a 1 bp deletion at nucleotide 3876 (3876delA) of the CFTR gene

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

; CYSTIC FIBROSIS

Identified Mutation

3876delA

Phenotypic Data

Remarks

Subject is an unaffected carrier identified by routine carrier screening; donor is heterozygous for a 1 bp deletion at nucleotide 3876 (3876delA) of the CFTR gene

Publications

Pratt VM, Caggana M, Bridges C, Buller AM, Diantonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV, Development of genomic reference materials for cystic fibrosis genetic testing The Journal of molecular diagnostics : JMD11:186-93 2009

PubMed ID: 19359498