GM03469

GM03469 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Alternate IDs

GM17066 [CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR]

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

MEXICAN

Family Member

Relation to Proband

father

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY; Mexican-American; daughter is GM03470 Lymphoid; 10% of cells show random chromosome loss; donor subject is heterozygous for an Arg>His change at amino acid 170 [G>A at nucleotide 641 (641G>A) in exon 5 of the CFTR gene]; 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

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

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

NEGATIVE CONTROLS

The genotype of this cell line was found to be wildtype for the following disorders: MTHFR-verified in 6 laboratories using methods including PCR + allele-specific hybridization, PCR + restriction endonuclease digestion and gel electrophoresis; Hemochromatosis-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, pyrosequencing, and PCR + DNA sequencing; Factor V Leiden-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, and Invader assay; Prothrombin-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, Invader assay, and PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis; Huntington disease-verified in 6 laboratories using methods including PCR and PAGE with more than one primer set, PCR and denaturing PAGE with two primer set and fluorescent detection, PCR and PAGE with one primer set, PCR and fragment length analysis by high resolution capillary electrophoresis, and PCR and denaturing PAGE with one primer set and fluorescent detection; Fragile X-verified in 6 laboratories using methods including double restriction enzyme digest plus Southern blot, single restriction enzyme digest plus Southern blot, PCR with PAGE, PCR with PAGE and Southern blot, and PCR with high resolution agarose gel electrophoresis; Craniosynostosis (FGFR3)-verified in 6 laboratories using methods including PCR + DNA sequencing and PCR + restriction endonuclease digestion and gel electrophoresis; Connexin 26-verified in 5 laboratories using methods including PCR + allele-specific hybridization, allele-specific amplification assay with gel electrophoresis, PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis, LightCycler, and PCR + DNA sequencing; Hemoglobin S and C-verified in 6 laboratories using methods including PCR + DNA sequencing, PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, and PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis; Alpha-thalassemia-verified in 6 laboratories using methods including genomic Southern blot, PCR and gel electrophoresis, and PCR and other analysis. This cell line was found to be wildtype for the common CFTR mutations and this was verified in 7 laboratories using methods including Innogenetics, Roche Linear Array Gold, sequencing, electrophoresis for RFLP and size analysis (for S1235R only), mutation scanning (heteroduplex analysis, dHPLC, SSCP, DGGE, etc.), and ABI version 3.0 oligonucleotide ligation assay.

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

R170H; CYSTIC FIBROSIS

Identified Mutation

ARG170HIS

Phenotypic Data

Remarks

Publications

Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013

PubMed ID: 23665875

Ames D, Murphy N, Helentjaris T, Sun N, Chandler VL, Comparative analyses of human single- and multi-locus tandem repeats Genetics3:1143-9 2008

PubMed ID: 18562644

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005

PubMed ID: 16244288

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT, Genetically characterized positive control cell lines derived from residual clinical blood samples Clinical chemistry51:2013-24 2005

PubMed ID: 16166172

Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005

PubMed ID: 16203772

Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003

PubMed ID: 12517831

Nenguke T, Aladjem MI, Gusella JF, Wexler NS, Arnheim N; Venezuela HD Project, Candidate DNA replication initiation regions at human trinucleotide repeat disease loci. Hum Mol Genet12(9):1021-8 2003

PubMed ID: 12700170

Zhukov VG, Navashin SM, Changes in the ultrastructure of Staph. aureus cells under the action of certain antibiotics. Antibiotiki9:813-7 1975

PubMed ID: 1180533