SKIP000789
SKIP ID SKIP000789
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) 7643-7
Cell Name 1(Ja) 7643-7
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. induced pluripotent stem cells (iPSCs) from Timothy syndrome patients.
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
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21307850
DOI 10.1038/nature09855
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10.1038/nature09855
Title Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.
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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
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Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE
Journal Nature
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Nature
Year 2011
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2011
Volume 471
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471
Issue 7337
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7337
Pages 230-4
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230-4
URL http://www.ncbi.nlm.nih.gov/pubmed/21307850
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http://www.ncbi.nlm.nih.gov/pubmed/21307850
Free input
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