Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)

[摘要] Familial adenomatous polyposis (FAP) is a disorder characterized by the development of numerous colorectal adenomatous polyps progressing to colorectal cancers and has been used as an important model to study the neoplasia formation. The peripheral blood mononuclear cells from a patient carrying a heterozygous 1 bp deletion in Exon 17 of the APC gene were reprogrammed using the Sendai Reprogramming Kit. This frameshift mutation in APC is expected to produce an aberrant truncated protein which is responsible for FAP. The established human induced pluripotent cell line will enable proper in vitro disease modelling of FAP.

[学科分类] 生理学