The Genetic Testing Reference Material Coordination Program of the Centers for Disease Control and Prevention (CDC) announces the availability of samples derived from transformed cell lines for use in molecular genetic testing. The DNA samples prepared from these reference cell lines are available through the Coriell Cell Repositories. Diseases include cystic fibrosis (CF), 5' 10' methylenetetrahydrofolate reductase deficiency (MTHFR), HFE-associated hereditary hemochromatosis, Huntington disease (HD), fragile X syndrome, Muenke syndrome, connexin 26-associated deafness, and alpha-thalassemia.
These reference cell lines contain mutations of public health importance, some of which were not previously available. The CF samples contain mutations associated with unique populations (394delTT, S1235R), combinations of IVS8 poly-thymidine tract variants (5T, 7T, and 9T), as well as mutations not previously available (I148T, 1078delT). Three DNA samples with homozygous MTHFR-related mutations (A222V/A222V) are available. Hemochromatosis-associated samples include a compound HFE heterozygote (H63D/S65C) as well as other combinations of HFE alleles. DNA samples with triplet repeats at the intermediate-range are available for HD (31 repeats) and Fragile X syndrome (56 repeats).
Mutations were confirmed in all cell lines from which the DNA has been prepared by reference testing and multi-laboratory pilot testing. Control DNA samples negative for all mutations are also available.
Additional samples with multiply characterized mutations are available from the NIGMS Repository.
Laboratories are encouraged to contact Coriell to inquire about obtaining samples or donating samples as possible candidates for transformation.
General Inquiries
email: CDC@coriell.org
phone: 856-757-3805
