| SKIP000982 | |
| SKIP ID | SKIP000982 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | - |
| Cell Tissue(Ja) | - |
| Cell Origin | Diseased |
| Cell Name 1(En) | NPC1-2-Corr#32 |
| Cell Name 1(Ja) | NPC1-2-Corr#32 |
| Cell Name 2(En) | - |
| Cell Name 2(Ja) | - |
| Disease Name 1(Ja) | ニーマンピック病C型 |
| ICD Code 1 | E75.242 |
| Disease Name 1(En) | Niemann-Pick typeC disease |
| OMIM1 | 257220 |
| 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 | 9 |
| Age Range | 0-9 |
| Sex | Female |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | Transgene-free iPSCs from fibroblasts of NPC patients using Cre-excisable lentiviruses (loxP-TetO-OKSM, loxP-FUW-M2rtTA). iPSC line, NPC1-2x, was established from the same person's fibroblasts, GM03123. The construct contained a puromycin selection cassette (puroΔtk) flanked by piggyBac terminal repeats allowing for correction of the I1061T mutation and the complete removal of the selection cassette, and restorating this mutation. |
| Description(Ja) | NPC患者由来皮膚線維芽細胞にCreで排除可能な特定の配列（loxP-TetO-OKSM, loxP-FUW-M2rtTA）をのせたレンチウイルスを用いてトランスジーンが残存しないiPSCを樹立した。 NPC1-2xは同一ヒト皮膚線維芽細胞（GM03123）由来のクローン株。 本コンストラクトにはピギーバック終末リピート配列によるピューロマイシンセレクションカセット（puroΔtk）が含まれており、I1061T変異の修復や完全除去が可能である。本iPSCラインでは修復を施した。 |
| Cell Morphology | human ES-like |
| Grade | Research Grade |
| Vector | Lentivirus |
| Transgene | loxP-TetO-OKSM, loxP-FUW-M2rtTA |
| Adhesiveness | - |
| Feeder | Yes |
| Feeder Cell | - |
| Medium | - |
| Genome Editing | The construct contained a puromycin selection cassette (puroΔtk) flanked by piggyBac terminal repeats allowing for correction of the I1061T mutation and the complete removal of the selection cassette, and restorating this mutation. |
| CO2 | - |
| Mycoplasma | Unknown |
| Detection of Contaminants Mycoplasma | - |
| Pluripotent Markers | Yes |
| Pluripotent Markers Assay | immunocytochemistry |
| in vitro Differentiation | Yes |
| in vitro Differentiation Assay | hepatic and neuronal differentiation |
| in vivo Differentiation | Yes |
| in vivo Differentiation Assay | teratoma formation 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 | Yes |
| Remaining Vector Detection Assay | Southern blot analysis |
| STR | Yes |
| HLA | - |
| Stem Cell Transcriptome analysis | Yes |
| Stem Cell Transcriptome analysis Assay | qRT-PCR |
| Author Name(En) | Rudolf Jaenisch |
| Author Name(Ja) | Rudolf Jaenisch |
| Author Organization(En) | Whitehead Institute for Biomedical Research |
| Author Organization(Ja) | Whitehead Institute for Biomedical Research |
| Author Contact Email | jaenisch[at]wi[dot]mit[dot]edu |
| PI Organization(En) | Whitehead Institute for Biomedical Research |
| PI Organization(Ja) | Whitehead Institute for Biomedical Research |
| PI Name(En) | Rudolf Jaenisch |
| PI Name(Ja) | Rudolf Jaenisch |
| PI Contact Email | jaenisch[at]wi[dot]mit[dot]edu |
| Availability | Information Only |
| Provider Organization(En) | Whitehead Institute for Biomedical Research |
| Provider Organization(Ja) | Whitehead Institute for Biomedical Research |
| Provider Email | jaenisch[at]wi[dot]mit[dot]edu |
| Provider URL | - |
| Ethical Statement(En) | - |
| Ethical Statement(Ja) | - |
| Terms of Use(En) | - |
| Terms of Use(Ja) | - |
| PubMed ID | 24936472 |
| DOI | 10.1016/j.stemcr.2014.03.014 |
| Title | Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells. |
| Authors | Maetzel D, Sarkar S, Wang H, Abi-Mosleh L, Xu P, Cheng AW, Gao Q, Mitalipova M, Jaenisch R |
| Journal | Stem Cell Reports |
| Year | 2014 |
| Volume | 2 |
| Issue | 6 |
| Pages | 866-80 |
| URL | http://www.ncbi.nlm.nih.gov/pubmed/24936472 |
| Free input | - |
| Note | - |