SKIP000698
SKIP ID SKIP000698
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) NPC1-3#4
Cell Name 1(Ja) NPC1-3#4
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, NPC1-3#47, was established from the same person's fibroblasts, GM22870.
NPC1-4#17 and #20 are the same disease iPSCs established from this patient's sister fibroblasts (GM22871).
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。
NPC1-3#47は同一ヒト皮膚線維芽細胞(GM22870)由来のクローン株。
NPC1-4#17と#20は同一疾患のiPS細胞であるが、本患者の姉妹(GM22871)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 -