Cellosaurus logo
expasy logo

Cellosaurus G-OF4iPS18 (CVCL_WL25)

[Text version]
Cell line name G-OF4iPS18
Accession CVCL_WL25
Resource Identification Initiative To cite this cell line use: G-OF4iPS18 (RRID:CVCL_WL25)
Comments Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
Sequence variations
  • Mutation; HGNC; HGNC:9585; PTCH1; Simple; c.652G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=28915250).
Disease Nevoid basal cell carcinoma syndrome (NCIt: C2892)
Gorlin syndrome (ORDO: Orphanet_377)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25-30Y
Category Induced pluripotent stem cell
Publications

PubMed=28915250; DOI=10.1371/journal.pone.0184702; PMCID=PMC5600381
Onodera S., Saito A., Hasegawa D., Morita N., Watanabe K., Nomura T., Shibahara T., Ohba S., Yamaguchi A., Azuma T.
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.
PLoS ONE 12:E0184702-E0184702(2017)

PubMed=29088246; DOI=10.1371/journal.pone.0186879; PMCID=PMC5663396
Hasegawa D., Ochiai-Shino H., Onodera S., Nakamura T., Saito A., Onda T., Watanabe K., Nishimura K., Ohtaka M., Nakanishi M., Kosaki K., Yamaguchi A., Shibahara T., Azuma T.
Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
PLoS ONE 12:E0186879-E0186879(2017)

Cross-references
Encyclopedic resources Wikidata; Q93558137
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9