SKIP000553
SKIP ID SKIP000553
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) Patient 2
Cell Name 1(Ja) Patient 2
Cell Name 2(En) -
Cell Name 2(Ja) -
Disease Name 1(Ja) もやもや病
ICD Code 1 I67.5
Disease Name 1(En) Moyamoya disease
OMIM1 252350
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 63
Age Range --
Sex Female
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) Disease specific iPS cell line derived from moyamoya disease patient
Description(Ja) もやもや病患者由来疾患特異的iPS細胞株
Cell Morphology human ES-like
Grade Research Grade
Vector --
Transgene -
Adhesiveness Yes
Feeder --
Feeder Cell -
Medium Primates ES medium, 14ng/ml hbFGF
Genome Editing -
CO2 -
Mycoplasma -
Detection of Contaminants Mycoplasma -
Pluripotent Markers -
Pluripotent Markers Assay -
in vitro Differentiation -
in vitro Differentiation Assay -
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 Yes
Karyotype Assay -
Remaining Vector Detection -
Remaining Vector Detection Assay -
STR -
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) Toshiaki Hitomi
Author Name(Ja) Toshiaki Hitomi
Author Organization(En) Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University
Author Organization(Ja) Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University
Author Contact Email -
PI Organization(En) Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University
PI Organization(Ja) Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University
PI Name(En) Akio Koizumi
PI Name(Ja) Akio Koizumi
PI Contact Email -
Availability Information Only
Provider Organization(En) -
Provider Organization(Ja) -
Provider Email -
Provider URL -
Ethical Statement(En) -
Ethical Statement(Ja) -
Terms of Use(En) -
Terms of Use(Ja) -
PubMed ID 23994138
DOI 10.1016/j.bbrc.2013.08.067
Title The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
Authors Hitomi T, Habu T, Kobayashi H, Okuda H, Harada KH, Osafune K, Taura D, Sone M, Asaka I, Ameku T, Watanabe A, Kasahara T, Sudo T, Shiota F, Hashikata H, Takagi Y, Morito D, Miyamoto S, Nakao K, Koizumi A
Journal Biochem Biophys Res Commun
Year 2013
Volume 439
Issue 4
Pages 419-26
URL http://www.ncbi.nlm.nih.gov/pubmed/23994138
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