| SKIP000701 | |
| SKIP ID | SKIP000701 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | - |
| Cell Tissue(Ja) | - |
| Cell Origin | Diseased |
| Cell Name 1(En) | D1-1 |
| Cell Name 1(Ja) | D1-1 |
| Cell Name 2(En) | - |
| Cell Name 2(Ja) | - |
| Disease Name 1(Ja) | 乳児重症ミオクロニーてんかん |
| ICD Code 1 | G40.4 |
| Disease Name 1(En) | Dravet syndrome |
| OMIM1 | 607208 |
| 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 | 21 |
| Age Range | 20-29 |
| Sex | Female |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | Disease specific iPSC line derived from Dravet syndrome patient. A nonsense mutation in SCN1A (c.4933C>T) is found in blood leukocyte-extracted genomic DNA. Human iPSCs were established via the retroviral transduction of four reprograming factors (Sox2, Klf4, Oct3/4, and c-Myc) into skin fibroblasts. |
| Description(Ja) | Dravet症候群患者由来の疾患特異的iPS細胞.SCN1A遺伝子点変異4933C>T |
| Cell Morphology | human ES-like |
| Grade | Research Grade |
| Vector | Retrovirus |
| Transgene | Sox2, Klf4, Oct3/4, c-Myc |
| Adhesiveness | - |
| Feeder | Yes |
| Feeder Cell | mitomycin C-treated SNL feeder |
| Medium | standard hESC medium (Dulbecco's modified Eagle's medium [DMEM]/F12 [Sigma] containing 20% KnockOut serum replacement [KSR; Life Technologies], nonessential amino acids [NEAA], 0.1 mM 2-mercaptoethanol [Sigma], and 4 ng/ml fibroblast growth factor 2 [FGF-2] [PeproTech]) |
| Genome Editing | - |
| CO2 | - |
| Mycoplasma | - |
| Detection of Contaminants Mycoplasma | - |
| Pluripotent Markers | Yes |
| Pluripotent Markers Assay | Immunostaining |
| in vitro Differentiation | - |
| 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 | Yes |
| Karyotype Assay | G-band karyotyping |
| Remaining Vector Detection | - |
| Remaining Vector Detection Assay | - |
| STR | - |
| HLA | - |
| Stem Cell Transcriptome analysis | - |
| Stem Cell Transcriptome analysis Assay | - |
| Author Name(En) | Norimichi Higurashi |
| Author Name(Ja) | 日暮憲道 |
| Author Organization(En) | Department of Pediatrics, Jikei University School of Medicine |
| Author Organization(Ja) | 東京慈恵医科大学 |
| Author Contact Email | - |
| PI Organization(En) | Department of Pediatrics, Fukuoka University School of Medicine |
| PI Organization(Ja) | 福岡大学医学部 |
| PI Name(En) | Shinichi Hirose |
| PI Name(Ja) | 廣瀬伸一 |
| PI Contact Email | - |
| Availability | Available |
| Provider Organization(En) | Department of Pediatrics, Fukuoka University School of Medicine |
| Provider Organization(Ja) | 福岡大学医学部小児科 |
| Provider Email | - |
| Provider URL | http://fukudai-shounika.net/index.php |
| Ethical Statement(En) | - |
| Ethical Statement(Ja) | - |
| Terms of Use(En) | - |
| Terms of Use(Ja) | - |
| PubMed ID | 23639079 |
| DOI | 10.1186/1756-6606-6-19 |
| Title | A human Dravet syndrome model from patient induced pluripotent stem cells. |
| Authors | Higurashi N, Uchida T, Lossin C, Misumi Y, Okada Y, Akamatsu W, Imaizumi Y, Zhang B, Nabeshima K, Mori MX, Katsurabayashi S, Shirasaka Y, Okano H, Hirose S |
| Journal | Mol Brain |
| Year | 2013 |
| Volume | 6 |
| Issue | - |
| Pages | 19 |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/23639079 |
| Free input | - |
| Note | - |