GM11860

GM11860 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)

Affected:

Yes

Sex:

Female

Age:

21 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Pharmacogenetics

Class

Other Disorders of Known Biochemistry

Alternate IDs

GM17029 [CYSTIC FIBROSIS; CF]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Asiatic Indian

Ethnicity

PAKISTANI

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; homozygous for 3849 +10kb,C>T mutation; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T; Pakistani; mild pulmonary disease with pancreatic exocrine sufficiency and normal sweat chloride; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR

The CFTR gene mutation data for this repository number was verified by sequencing.

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0062; CYSTIC FIBROSIS

Identified Mutation

IVS19DS, +10 KB, C>T (3849+10kbC>T); Referred to as 3849 + 10 kb C-to-T, this mutation in intron 19 is one of the 5 common mutations found in Ashkenazi Jewish patients with CF. The other four are delF508 (602421.0001), G542X (602421.0009), W1282X (602421.0022), and N1303K (602421.0032).

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0062; CYSTIC FIBROSIS

Identified Mutation

Phenotypic Data

Remarks

Publications

Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005

PubMed ID: 15914676

Millikan RC, Hummer A, Begg C, Player J, de Cotret AR, Winkel S, Mohrenweiser H, Thomas N, Armstrong B, Kricker A, Marrett LD, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Busam K, From L, Mujumdar U, Berwick M, Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study Carcinogenesis27:610-8 2005

PubMed ID: 16258177

Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004

PubMed ID: 15507674

Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004

PubMed ID: 14709668