SKIP000700 | |
SKIP ID | SKIP000700 |
Organism(En) | - |
Organism(Ja) | - |
Cell Type(En) | - |
Cell Type(Ja) | - |
Cell Tissue(En) | - |
Cell Tissue(Ja) | - |
Cell Origin | Diseased |
Cell Name 1(En) | NPC1-4#20 |
Cell Name 1(Ja) | NPC1-4#20 |
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 | 4 |
Age Range | 0-9 |
Sex | Female |
Race(En) | - |
Race(Ja) | - |
Genetic Diagnosis | Yes |
Not Detected | No |
Description(En) | We generated transgene-free iPSCs from fibroblasts of NPC patients using Cre-excisable lentiviruses (loxP-TetO-OKSM, loxP-FUW-M2rtTA). iPSC line, NPC1-4#17, was established from the same person's fibroblasts, GM22871. NPC1-3#4 and #47 are the same disease iPSCs established from this patient's sister fibroblasts (GM22870). |
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。 NPC1-4#17は同一ヒト皮膚線維芽細胞(GM22871)由来のクローン株。 NPC1-3#4と#47は同一疾患のiPS細胞であるが、本患者の姉妹(GM22870)より樹立された株である。 |
Cell Morphology | human ES-like |
Grade | Research Grade |
Vector | Lentivirus |
Transgene | loxP-TetO-OKSM, loxP-FUW-M2rtTA |
Adhesiveness | - |
Feeder | Yes |
Feeder Cell | MEF |
Medium | hESC medium [DMEM/F12 (Invitrogen) supplemented with 15% fetal bovine serum (FBS) (Hyclone), 5% KnockOut Serum Replacement (Invitrogen), 1 mM glutamine (Invitrogen), 1% nonessential amino acids (Invitrogen), 0.1 mM beta-mercaptoethanol (Sigma) and 4 ng/ml FGF2 (R&D Systems)]. |
Genome Editing | - |
CO2 | - |
Mycoplasma | Unknown |
Detection of Contaminants Mycoplasma | - |
Pluripotent Markers | Yes |
Pluripotent Markers Assay | qPCR and ICC |
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 | - |
Stem Cell Transcriptome analysis Assay | - |
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 | - |