Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1.
In this study, we generated iPSCs derived from fibroblasts of four patients with Gorlin syndrome (Gln-iPSCs) with heterozygous mutations of the PTCH1 gene. Gln-iPSCs from the four patients developed into medulloblastoma, a manifestation of Gorlin syndrome, in 100% (four out of four), of teratomas after implantation into immunodeficient mice, but none (0/584) of the other iPSC-teratomas did so. One of the medulloblastomas showed loss of heterozygosity in the PTCH1 gene while the benign teratoma, i.e. the non-medulloblastoma portion, did not, indicating a close clinical correlation between tumorigenesis in Gorlin syndrome patients and Gln-iPSCs.
PMID: 32436863 [PubMed - as supplied by publisher]
Source: Aging - Category: Biomedical Science Authors: Ikemoto Y, Miyashita T, Nasu M, Hatsuse H, Kajiwara K, Fujii K, Motojima T, Kokido I, Toyoda M, Umezawa A Tags: Aging (Albany NY) Source Type: research
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