| SKIP000813 | |
| SKIP ID | SKIP000813 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | Human dermal fibroblasts |
| Cell Tissue(Ja) | Human dermal fibroblasts |
| Cell Origin | Diseased |
| Cell Name 1(En) | TD1-10749-2 |
| Cell Name 1(Ja) | TD1-10749-2 |
| Cell Name 2(En) | - |
| Cell Name 2(Ja) | - |
| Disease Name 1(Ja) | タナトフォリック骨異形成症 |
| ICD Code 1 | Q771 |
| Disease Name 1(En) | Thanatophoric dysplasia type I |
| OMIM1 | 187600 |
| Disease Name 2(Ja) | - |
| ICD Code 2 | - |
| Disease Name 2(En) | - |
| OMIM 2 | - |
| Disease Name 3(Ja) | - |
| ICD Code 3 | - |
| Disease Name 3(En) | - |
| OMIM 3 | - |
| Age | - |
| Age Range | 0-9 |
| Sex | Male |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | TD1(GM10749)-specific iPSC |
| Description(Ja) | タナトフォリック骨異形成症(GM10749)患者線維芽細胞由来iPS細胞 |
| Cell Morphology | human ES-like |
| Grade | Research Grade |
| Vector | Other |
| Transgene | Mixture Y4: OCT4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA |
| Adhesiveness | - |
| Feeder | Yes |
| Feeder Cell | SNL or MEF |
| Medium | hiPSC medium |
| Genome Editing | - |
| CO2 | - |
| Mycoplasma | Negative |
| Detection of Contaminants Mycoplasma | - |
| Pluripotent Markers | Yes |
| Pluripotent Markers Assay | Immunocytochemical staining |
| in vitro Differentiation | Yes |
| in vitro Differentiation Assay | - |
| in vivo Differentiation | Yes |
| in vivo Differentiation Assay | Teratoma formation |
| Other 1 Assay | - |
| Other 1 Assay Method | - |
| Other 2 Assay | - |
| Other 2 Assay Method | - |
| Other 3 Assay | - |
| Other 3 Assay Method | - |
| Karyotype | - |
| Karyotype Assay | - |
| Remaining Vector Detection | - |
| Remaining Vector Detection Assay | - |
| STR | - |
| HLA | - |
| Stem Cell Transcriptome analysis | - |
| Stem Cell Transcriptome analysis Assay | - |
| Author Name(En) | Noriyuki Tsumaki |
| Author Name(Ja) | 妻木 範行 |
| Author Organization(En) | Center for iPS Cell Research and Application, Kyoto University |
| Author Organization(Ja) | 京都大学iPS細胞研究所 |
| Author Contact Email | tsumaki-g[at]cira[dot]kyoto-u[dot]ac[dot]jp |
| PI Organization(En) | - |
| PI Organization(Ja) | - |
| PI Name(En) | - |
| PI Name(Ja) | - |
| PI Contact Email | - |
| Availability | Information Only |
| Provider Organization(En) | Center for iPS Cell Research and Application, Kyoto University |
| Provider Organization(Ja) | 京都大学iPS細胞研究所 |
| Provider Email | - |
| Provider URL | https://www.cira.kyoto-u.ac.jp/j/index.html |
| Ethical Statement(En) | - |
| Ethical Statement(Ja) | - |
| Terms of Use(En) | - |
| Terms of Use(Ja) | - |
| PubMed ID | 25231866 |
| DOI | 10.1038/nature13775 |
| Title | Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. |
| Authors | Yamashita A, Morioka M, Kishi H, Kimura T, Yahara Y, Okada M, Fujita K, Sawai H, Ikegawa S, Tsumaki N |
| Journal | Nature |
| Year | 2014 |
| Volume | 513 |
| Issue | 7519 |
| Pages | 507-11 |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/25231866 |
| Free input | - |
| Note | - |