SKIP000817 | |
SKIP ID | SKIP000817 |
Organism(En) | - |
Organism(Ja) | - |
Cell Type(En) | - |
Cell Type(Ja) | - |
Cell Tissue(En) | - |
Cell Tissue(Ja) | - |
Cell Origin | Diseased |
Cell Name 1(En) | ACHhomo-8859-3 |
Cell Name 1(Ja) | ACHhomo-8859-3 |
Cell Name 2(En) | - |
Cell Name 2(Ja) | - |
Disease Name 1(Ja) | 軟骨無形成症 |
ICD Code 1 | Q774 |
Disease Name 1(En) | Achondroplasia |
OMIM1 | 100800 |
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 | Female |
Race(En) | Japanese |
Race(Ja) | Japanese |
Genetic Diagnosis | Yes |
Not Detected | No |
Description(En) | Achondroplasia(GM08859)-specific iPSC. GM08859 is from the homozygous child of GM08857 and GM08858. |
Description(Ja) | 軟骨無形成症患者(GM08859)繊維芽細胞由来iPS細胞。 GM08859はGM08858の母親とGM08857の父親の子ども(ホモ接合性)。 |
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 | - |