SKIP000812 |
SKIP ID |
SKIP000812 |
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) |
TD1-714-3 |
Cell Name 1(Ja) |
TD1-714-3 |
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(GM00714)-specific iPSC |
Description(Ja) |
タナトフォリック骨異形成症(GM00714)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 |
- |