ID   G-OF4iPS18
AC   CVCL_WL25
DR   Wikidata; Q93558137
RX   PubMed=28915250;
RX   PubMed=29088246;
CC   Sequence variation: Mutation; HGNC; HGNC:9585; PTCH1; Simple; c.652G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=28915250).
CC   Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
DI   NCIt; C2892; Nevoid basal cell carcinoma syndrome
DI   ORDO; Orphanet_377; Gorlin syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25-30Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28915250; DOI=10.1371/journal.pone.0184702; PMCID=PMC5600381;
RA   Onodera S., Saito A., Hasegawa D., Morita N., Watanabe K., Nomura T.,
RA   Shibahara T., Ohba S., Yamaguchi A., Azuma T.;
RT   "Multi-layered mutation in hedgehog-related genes in Gorlin syndrome
RT   may affect the phenotype.";
RL   PLoS ONE 12:e0184702.1-e0184702.14(2017).
//
RX   PubMed=29088246; DOI=10.1371/journal.pone.0186879; PMCID=PMC5663396;
RA   Hasegawa D., Ochiai-Shino H., Onodera S., Nakamura T., Saito A.,
RA   Onda T., Watanabe K., Nishimura K., Ohtaka M., Nakanishi M.,
RA   Kosaki K., Yamaguchi A., Shibahara T., Azuma T.;
RT   "Gorlin syndrome-derived induced pluripotent stem cells are
RT   hypersensitive to hedgehog-mediated osteogenic induction.";
RL   PLoS ONE 12:e0186879.1-e0186879.17(2017).
//