| Cell line name |
G-OF2iPS10 |
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| Accession |
CVCL_WL24 |
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| Resource Identification Initiative |
To cite this cell line use: G-OF2iPS10 (RRID:CVCL_WL24) |
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| Comments |
Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729. |
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| Sequence variations |
- Mutation; HGNC; HGNC:9585; PTCH1; Simple; c.652G>A; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=28915250).
|
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| Disease |
Nevoid basal cell carcinoma syndrome (NCIt: C2892)
Gorlin syndrome (ORDO: Orphanet_377) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
25-30Y |
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| Category |
Induced pluripotent stem cell |
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| Publications | PubMed=28915250; DOI=10.1371/journal.pone.0184702; PMCID=PMC5600381
Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma;
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.
PLoS ONE 12:e0184702.1-e0184702.14(2017) PubMed=29088246; DOI=10.1371/journal.pone.0186879; PMCID=PMC5663396
Daigo Hasegawa, Hiromi Ochiai-Shino, Shoko Onodera, Takashi Nakamura, Akiko Saito, Takeshi Onda, Katsuhito Watanabe, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Kenjiro Kosaki ...Show all 14 authors... , Akira Yamaguchi, Takahiko Shibahara, Toshifumi Azuma; Show fewer authors
Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
PLoS ONE 12:e0186879.1-e0186879.17(2017) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q93558117
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| Entry history |
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| Entry creation | 24-May-2019 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 9 |
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