Characterization of Publicly Available Lymphoblastoid Cell Lines for Disease-Associated Mutations in 11 Genes

Published

November 1, 2005

Author(s)

S H. Bernacki, J C. Beck, Kasinathan Muralidharan, Fredrick V. Schaefer, A E. Shrimpton, Kristy L. Richie, Barbara C. Levin, G Pont-Kingdon, T T. Stenzel

Abstract

Clinical genetic testing is currently offered for over 780 genetically based diseases. Genetic testing laboratories require both positive and negative genetic control materials for proficiency evaluation, quality control, and test development/validation. Such materials are in critically short supply for many disease mutations. Genetic material, generally DNA, can be purified from Epstein Barr virus (EBV) transformed blood lymphocyte cell lines using procedures very similar to those used for patient samples. The resulting preparations closely resemble DNA purified from patient samples, and therefore often can be used as controls in clinical genetic testing applications.

Citation

Clinical Chemistry

Volume

51

Issue

No. 11

Pub Type

Journals

Keywords

5, 10-methylenetetrahydrofolate reductase, alpha-thalassemia, cell repository, clinical genetics, cystic fibrosis, F2 (coagulation factor II thrombin), fragile X, MTHFR, NADPH

Citation

Bernacki, S. , Beck, J. , Muralidharan, K. , Schaefer, F. , Shrimpton, A. , Richie, K. , Levin, B. , Pont-Kingdon, G. and Stenzel, T. (2005), Characterization of Publicly Available Lymphoblastoid Cell Lines for Disease-Associated Mutations in 11 Genes, Clinical Chemistry (Accessed October 14, 2025)