SKIP000174
SKIP ID SKIP000174
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) CiRA188Ai-W1
Cell Name 1(Ja) CiRA188Ai-W1
Cell Name 2(En) HPS0120
Cell Name 2(Ja) HPS0120
Disease Name 1(Ja) CINCA症候群
ICD Code 1 -
Disease Name 1(En) CINCA syndrome
OMIM1 607115
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 --
Sex Male
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) iPSC from CINCA syndrome patient with mutaion 919G>A (G307S) in NLRP3 as somatic mosaicism
Riken BRC:HSP0120
Description(Ja) 疾患特異的iPS細胞株。慢性乳児神経皮膚関節炎症候群(CINCA症候群)患者由来。HPS0119と同一人由来。
Cell Morphology human ES-like
Grade --
Vector Retrovirus
Transgene Retroviral vector, Oct3/4, Sox2, Klf4, c-Myc
Adhesiveness -
Feeder Yes
Feeder Cell SNL 76/7 (X-rays:5000R or MMC) 1.5-2.5x10^(6) cells/100mm dish
Medium Primate ES medium (ReproCELL) + 4ng/mL bFGF (Wako)
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 normal
Remaining Vector Detection -
Remaining Vector Detection Assay -
STR -
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) Tatsutoshi Nakahata
Author Name(Ja) 中畑龍俊
Author Organization(En) Center for iPS Cell Research and Application, Kyoto University
Author Organization(Ja) 京都大学iPS細胞研究所
Author Contact Email -
PI Organization(En) -
PI Organization(Ja) -
PI Name(En) -
PI Name(Ja) -
PI Contact Email -
Availability Not Available
Provider Organization(En) Riken BRC
Provider Organization(Ja) 理研BRC
Provider Email -
Provider URL http://www2.brc.riken.jp/lab/cell/detail.cgi?cell_no=HPS0120&type=1
Ethical Statement(En) -
Ethical Statement(Ja) -
Terms of Use(En) -
Terms of Use(Ja) -
PubMed ID 22723549
DOI 10.1182/blood-2012-03-417881
Title Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery
Authors Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK.
Journal Blood
Year 2012
Volume 120
Issue 8
Pages 1299-1308
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=22723549
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