Generation of two induced pluripotent stem cell lines from Lynch syndrome patients carrying heterozygous MLH1 mutations.

Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer (HNPCC), is one of the most common hereditary cancersyndromes. LS is caused by a pathogenic mutation in one of the four DNA mismatch repairgenesMLH1,MSH2,MSH6, orPMS2, or inEPCAM, which is upstream ofMSH2. We generated two human induced pluripotent stem cell (iPSC) lines from LS patients carrying different single heterozygous missense mutations in theMLH1gene. Pluripotency, morphology, karyotype stability, and differentiation capacity of both lines werenormal. These patient-specific iPSC lines area valuable tool to investigate LS phenotypes and develop potential therapeutics.