SKIP000171 | |
SKIP ID | SKIP000171 |
Organism(En) | - |
Organism(Ja) | - |
Cell Type(En) | - |
Cell Type(Ja) | - |
Cell Tissue(En) | - |
Cell Tissue(Ja) | - |
Cell Origin | Diseased |
Cell Name 1(En) | CiRA086Ai-m1 |
Cell Name 1(Ja) | CiRA086Ai-m1 |
Cell Name 2(En) | HPS0117 |
Cell Name 2(Ja) | HPS0117 |
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 1709A>G (Y570C) in NLRP3 as somatic mosaicism Riken BRC:HPS0117 |
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。 |
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=HPS0117&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 |
Free input | - |
Note | - |