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Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to Hedgehog-mediated osteogenic induction

ABSTRACT: Gorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. Patched-1 (PTCH1) is a Hedgehog (Hh) receptor that acts as a negative regulator of constitutive Hh signaling by preventing the G protein-coupled receptor Smoothened from entering the cilium in the absence of Hh protein binding. We generated iPSCs from four unrelated Gorlin syndrome patients with loss-of-function mutations in PTCH1 using the Sendai virus vector (SeVdp(KOSM)302). The patient-derived iPSCs exhibited basic iPSC features, including stem cell marker expression, totipotency, and the ability to form teratomas. To check the Patient-derived iPSCs mimic patinet phenotype, We performted osteoblast differentiation and checked mRNA expression by hedgehog PCR array systems.

ORGANISM(S): Homo sapiens

PROVIDER: GSE104499 | GEO | 2017/12/01

SECONDARY ACCESSION(S): PRJNA412853

REPOSITORIES: GEO

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