This line was derived from a preimplantation genetic diagnosis (PGD) embryo carrying mutations associated with myotonic dystrophy type 1 (DM1), which is an autosomal dominant disorder caused by a mutation in the dystrophia myotonica protein kinase gene (DMPK). Cells are positive for pluripotent markers and have a 46,XX karyotype.
Derivation and culture medium (hES medium): Knockout Dulbecco’s modified Eagle’s medium (KO DMEM) supplemented with Knockout-Serum Replacement (KO-SR; 20%), L-glutamine (2 mmol/l), non-essential amino acids (1%), beta-mercaptoethanol (0.1 mmol/l) and human recombinant basic fibroblast growth factor (hrbFGF; 4 ng/ml). CF1 MEF cells are used as feeder cells.