SKIP000790 | |
SKIP ID | SKIP000790 |
Organism(En) | - |
Organism(Ja) | - |
Cell Type(En) | - |
Cell Type(Ja) | - |
Cell Tissue(En) | - |
Cell Tissue(Ja) | - |
Cell Origin | Diseased |
Cell Name 1(En) | 9862-61 |
Cell Name 1(Ja) | 9862-61 |
Cell Name 2(En) | - |
Cell Name 2(Ja) | - |
Disease Name 1(Ja) | ティモシー症候群 |
ICD Code 1 | I45.8 |
Disease Name 1(En) | Timothy syndrome |
OMIM1 | 601005 |
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 | -- |
Race(En) | - |
Race(Ja) | - |
Genetic Diagnosis | Yes |
Not Detected | No |
Description(En) | Human iPSCs.The Timothy syndrome iPSCs preserved the Timothy syndrome mutation. |
Description(Ja) | 疾患特異的iPS細胞。ティモシー症候群患者由来。CAV1.2.遺伝子 の突然変異が認められる。 |
Cell Morphology | human ES-like |
Grade | Research Grade |
Vector | Retrovirus |
Transgene | SOX2 OCT3/4 KLF4 C-MYC |
Adhesiveness | - |
Feeder | Yes |
Feeder Cell | DR4 mouse embryonic fibroblast |
Medium | DMEM/F12(1:1)medium containing 20% knockoutTM SR,1mM non-essential amino acids,3mM L-glutamine,0.1mM beta-mercaptoethanol,100unit/ml penicillin and 100ug/ml streptomycin and 10-15 ng/ml bFGF |
Genome Editing | - |
CO2 | - |
Mycoplasma | - |
Detection of Contaminants Mycoplasma | - |
Pluripotent Markers | Yes |
Pluripotent Markers Assay | immunocytochemistry |
in vitro Differentiation | Yes |
in vitro Differentiation Assay | Teratoma formation assays |
in vivo Differentiation | Yes |
in vivo Differentiation Assay | Teratoma formation assays |
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 | Karyogram |
Remaining Vector Detection | Yes |
Remaining Vector Detection Assay | RT-PCR |
STR | - |
HLA | - |
Stem Cell Transcriptome analysis | Yes |
Stem Cell Transcriptome analysis Assay | Microarray http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?token=jncfzcucugewaha&acc=GSE25542 |
Author Name(En) | Masayuki Yazawa |
Author Name(Ja) | 矢澤 真幸 |
Author Organization(En) | Stanford University |
Author Organization(Ja) | スタンフォード大学 |
Author Contact Email | - |
PI Organization(En) | - |
PI Organization(Ja) | - |
PI Name(En) | - |
PI Name(Ja) | - |
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 | 21307850 -- 21307850 |
DOI | 10.1038/nature09855 -- 10.1038/nature09855 |
Title | Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. -- Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. |
Authors | Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE -- Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE |
Journal | Nature -- Nature |
Year | 2011 -- 2011 |
Volume | 471 -- 471 |
Issue | 7337 -- 7337 |
Pages | 230-4 -- 230-4 |
URL | http://www.ncbi.nlm.nih.gov/pubmed/21307850 -- http://www.ncbi.nlm.nih.gov/pubmed/21307850 |
Free input | -- |
Note | - |