Characterization of Publicly Available Lymphoblastoid Cell Lines for Disease-Associated Mutations in 11 Genes
Open Access
- 1 November 2005
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 51 (11) , 2156-2159
- https://doi.org/10.1373/clinchem.2005.048686
Abstract
Clinical genetic testing laboratories offer tests for >800 conditions (1) and need both positive and negative genetic control materials for proficiency evaluKeywords
Funding Information
- Abbott Laboratories
This publication has 17 references indexed in Scilit:
- Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood SamplesClinical Chemistry, 2005
- Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panelGenetics in Medicine, 2004
- Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator GeneThe Journal of Molecular Diagnostics, 2004
- Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic TestingThe Journal of Molecular Diagnostics, 2003
- Quest for Controls in Molecular GeneticsThe Journal of Molecular Diagnostics, 2003
- A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseasesHuman Molecular Genetics, 2003
- Laboratory standards and guidelines for population-based cystic fibrosis carrier screeningGenetics in Medicine, 2001
- A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosisNature Genetics, 1996
- A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseNature Genetics, 1995
- Length of uninterrupted CGG repeats determines instability in the FMR1 geneNature Genetics, 1994