| SKIP001128 | |
| SKIP ID | SKIP001128 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | - |
| Cell Tissue(Ja) | - |
| Cell Origin | Normal→Genome editing |
| Cell Name 1(En) | FUS H517D/H517D-0 |
| Cell Name 1(Ja) | FUS H517D/H517D-0 |
| Cell Name 2(En) | 409B2_FUS(H517D)11 |
| Cell Name 2(Ja) | 409B2_FUS(H517D)11 |
| Disease Name 1(Ja) | 家族性筋委萎縮性側索硬化症 |
| ICD Code 1 | G12.2 |
| Disease Name 1(En) | Familial amyotrophic lateral sclerosis |
| OMIM1 | 137070 |
| 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 | 30-39 |
| Sex | Female |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | Parental iPS Cell line (409B2) was derived from normal skin fibroblast. Gene mutation: homozygotic FUS point mutation (H517D) was introduced by TALEN-mediated genome editing. This clone still harbors loxP-PGK-PuroTK-loxP cassette at intron. |
| Description(Ja) | 健常人由来iPS細胞株(409B2)にFUS遺伝子点変異(H517D)をホモで導入したもの。ノックインしたloxP配列で挟まれたPGK-PuroTKは、イントロン中に残存している。 |
| Cell Morphology | human ES-like |
| Grade | Research Grade |
| Vector | Plasmid |
| Transgene | Episomal vector, pCXLE-Oct3/4, Sox2, Klf4, L-Myc, Lin28, p53 shRNA KI vector, loxP-PGK-PuroTK-loxP |
| Adhesiveness | - |
| Feeder | No |
| Feeder Cell | - |
| Medium | AK03 |
| Genome Editing | TALEN, PGK-PuroTK donor DNA |
| CO2 | 5% |
| Mycoplasma | - |
| Detection of Contaminants Mycoplasma | - |
| Pluripotent Markers | - |
| Pluripotent Markers Assay | - |
| in vitro Differentiation | Yes |
| in vitro Differentiation Assay | Motor neuron differentiation |
| 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 | - |
| Karyotype Assay | - |
| Remaining Vector Detection | - |
| Remaining Vector Detection Assay | - |
| STR | - |
| HLA | - |
| Stem Cell Transcriptome analysis | - |
| Stem Cell Transcriptome analysis Assay | - |
| Author Name(En) | Hideyuki Okano |
| Author Name(Ja) | 岡野栄之 |
| Author Organization(En) | Department of Physiology, Keio University School of Medicine |
| Author Organization(Ja) | 慶應義塾大学医学部生理学教室 |
| Author Contact Email | hidokano[at]a2[dot]keio[dot]jp |
| PI Organization(En) | Department of Physiology, Keio University School of Medicine |
| PI Organization(Ja) | 慶應義塾大学医学部生理学教室 |
| PI Name(En) | Hideyuki Okano |
| PI Name(Ja) | 岡野栄之 |
| PI Contact Email | hidokano[at]a2[dot]keio[dot]jp |
| Availability | Information Only |
| Provider Organization(En) | Department of Physiology, Keio University School of Medicine |
| Provider Organization(Ja) | 慶應義塾大学医学部生理学教室 |
| Provider Email | hidokano[at]a2[dot]keio[dot]jp |
| Provider URL | - |
| Ethical Statement(En) | - |
| Ethical Statement(Ja) | - |
| Terms of Use(En) | - |
| Terms of Use(Ja) | - |
| PubMed ID | 26997647 |
| DOI | 10.1016/j.stemcr.2016.02.011 |
| Title | Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells. |
| Authors | Ichiyanagi N, Fujimori K, Yano M, Ishihara-Fujisaki C, Sone T, Akiyama T, Okada Y, Akamatsu W, Matsumoto T, Ishikawa M, Nishimoto Y, Ishihara Y, Sakuma T, Yamamoto T, Tsuiji H, Suzuki N, Warita H, Aoki M, Okano H |
| Journal | Stem Cell Reports |
| Year | 2016 |
| Volume | 6 |
| Issue | 4 |
| Pages | 496-510 |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/26997647 |
| Free input | - |
| Note | - |