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

Abstract

Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer (HNPCC), is one of the most common hereditary cancer syndromes. LS is caused by a pathogenic mutation in one of the four DNA mismatch repair genes MLH1, MSH2, MSH6, or PMS2, or in EPCAM, which is upstream of MSH2. We generated two human induced pluripotent stem cell (iPSC) lines from LS patients carrying different single heterozygous missense mutations in the MLH1 gene. Pluripotency, morphology, karyotype stability, and differentiation capacity of both lines were normal. These patient-specific iPSC lines are a valuable tool to investigate LS phenotypes and develop potential therapeutics.