GM04330

GM04330 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

20 YR (At Sampling)

Overview

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

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Biochemical characterization - other

Species

Homo sapiens

Common Name

Human

Remarks

Classic CF with pancreatic insufficiency; elevated sweat electrolytes; see GM04331 Fibroblast; donor subject is a compound heterozygote: one allele has a deletion of A at nucleotide 444 (444delA) in exon 4 which results in a frameshift and a second allele carries a G-to-A substitution at nucleotide 1812-1 in intron 11 which results in an mRNA splicing defect in the CFTR gene [1812-1G-A]

Characterizations

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

; CYSTIC FIBROSIS

Identified Mutation

444delA

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

mRNA splicing defect; CYSTIC FIBROSIS

Identified Mutation

IVS11-1G>A (1812-1G>A)

Phenotypic Data

Remarks

Publications

McDonald TV, Nghiem PT, Gardner P, Martens CL, Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current. J Biol Chem267:3242-8 1992

PubMed ID: 1371114