| SKIP000876 |
| SKIP ID |
SKIP000876 |
| Organism(En) |
- |
| Organism(Ja) |
- |
| Cell Type(En) |
- |
| Cell Type(Ja) |
- |
| Cell Tissue(En) |
- |
| Cell Tissue(Ja) |
- |
| Cell Origin |
Diseased |
| Cell Name 1(En) |
Perry syndrome patient iPSCs |
| Cell Name 1(Ja) |
Perry syndrome patient iPSCs |
| Cell Name 2(En) |
- |
| Cell Name 2(Ja) |
- |
| Disease Name 1(Ja) |
ペリー症候群 |
| ICD Code 1 |
G20 |
| Disease Name 1(En) |
Perry syndrome |
| OMIM1 |
168605 |
| 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 |
61 |
| Age Range |
60-69 |
| Sex |
Male |
| Race(En) |
- |
| Race(Ja) |
- |
| Genetic Diagnosis |
Yes |
| Not Detected |
No |
| Description(En) |
Induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1.
|
| Description(Ja) |
DCTN1にF52L遺伝子変異をもつPerry症候群患者1名から作製したiPS細胞 |
| Cell Morphology |
human ES-like |
| Grade |
Research Grade |
| Vector |
Other |
| Transgene |
OCT3/4, SOX2, KLF4, L-MYC, LIN28, EBNA1, and p53
|
| Adhesiveness |
- |
| Feeder |
No |
| Feeder Cell |
- |
| Medium |
- |
| Genome Editing |
- |
| CO2 |
- |
| Mycoplasma |
Unknown |
| Detection of Contaminants Mycoplasma |
- |
| Pluripotent Markers |
Yes |
| Pluripotent Markers Assay |
Immunocytochemistry |
| in vitro Differentiation |
Yes |
| in vitro Differentiation Assay |
Immunocytochemistry |
| in vivo Differentiation |
- |
| in vivo Differentiation Assay |
- |
| Other 1 Assay |
- |
| Other 1 Assay Method |
- |
| Other 2 Assay |
- |
| Other 2 Assay Method |
- |
| Other 3 Assay |
- |
| Other 3 Assay Method |
- |
| Karyotype |
Yes |
| Karyotype Assay |
Karyotype analysis |
| Remaining Vector Detection |
- |
| Remaining Vector Detection Assay |
- |
| STR |
- |
| HLA |
- |
| Stem Cell Transcriptome analysis |
Yes |
| Stem Cell Transcriptome analysis Assay |
immunofluorescence staining |
| Author Name(En) |
Takayasu Mishima |
| Author Name(Ja) |
三嶋崇靖 |
| Author Organization(En) |
Center for iPS Cell Research and Application (CiRA), Kyoto University |
| Author Organization(Ja) |
京都大学iPS細胞研究所（CiRA） |
| Author Contact Email |
- |
| PI Organization(En) |
Center for iPS Cell Research and Application (CiRA), Kyoto University |
| PI Organization(Ja) |
京都大学iPS細胞研究所（CiRA） |
| PI Name(En) |
Haruhisa Inoue |
| PI Name(Ja) |
井上治久 |
| PI Contact Email |
- |
| Availability |
Information Only |
| Provider Organization(En) |
- |
| Provider Organization(Ja) |
- |
| Provider Email |
- |
| Provider URL |
- |
| Ethical Statement(En) |
- |
| Ethical Statement(Ja) |
- |
| Terms of Use(En) |
- |
| Terms of Use(Ja) |
- |
| PubMed ID |
27346608 |
| DOI |
10.1016/j.parkreldis.2016.06.007 |
| Title |
Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome. |
| Authors |
Takayasu Mishima, Taizo Ishikawa, Keiko Imamura, Takayuki Kondo, Yasushi Koshiba, Ryosuke Takahashi, Jun Takahashi, Akihiro Watanabe, Naoki Fujii, Yoshio Tsuboi, and Haruhisa Inoue |
| Journal |
Parkinsonism & Related Disorders |
| Year |
2016 |
| Volume |
Jun 15 |
| Issue |
S1353-8020(16) |
| Pages |
30226-7 |
| URL |
http://www.ncbi.nlm.nih.gov/pubmed/27346608 |
| Free input |
- |
| Note |
- |