SKIP000560
SKIP ID SKIP000560
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) WBS-I
Cell Name 1(Ja) WBS-I
Cell Name 2(En) -
Cell Name 2(Ja) -
Disease Name 1(Ja) ウィリアムズ症候群
ICD Code 1 Q93.8
Disease Name 1(En) Williams-Beuren syndrome
OMIM1 194050
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 1
Age Range 0-9
Sex --
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) Disease specific iPS cell line derived from Williams-Beuren syndrome patient
Description(Ja) ウィリアムズ症候群患者由来疾患特異的iPS細胞株
Cell Morphology human ES-like
Grade Research Grade
Vector Retrovirus
Transgene pMXs-Oct4, pMXs-Sox2, pMXs-Klf4, and pMXs-c-Myc
Adhesiveness Yes
Feeder Yes
Feeder Cell MEFs
Medium DMEM, L-Glutamine, 10% FBS, NEAA and penicillin/streptomycin
Genome Editing -
CO2 -
Mycoplasma -
Detection of Contaminants Mycoplasma -
Pluripotent Markers Yes
Pluripotent Markers Assay Immunofluorescence
in vitro Differentiation Yes
in vitro Differentiation Assay EB formation
in vivo Differentiation Yes
in vivo Differentiation Assay Teratoma formation
Other 1 Assay Yes
Other 1 Assay Method Bisulfite sequencing
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 Yes
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) Caroline Kinnear
Author Name(Ja) Caroline Kinnear
Author Organization(En) Department of Pediatrics
and dDevelopmental and
Stem Cell Biology, Hospital
for Sick Children, University
of Toronto
Author Organization(Ja) Department of Pediatricsand dDevelopmental andStem Cell Biology, Hospitalfor Sick Children, Universityof Toronto
Author Contact Email -
PI Organization(En) Department of Pediatrics
and dDevelopmental and
Stem Cell Biology, Hospital
for Sick Children, University
of Toronto
PI Organization(Ja) Department of Pediatricsand dDevelopmental andStem Cell Biology, Hospitalfor Sick Children, Universityof Toronto
PI Name(En) Seema Mital
PI Name(Ja) Seema Mital
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 23283491
DOI 10.5966/sctm.2012-0054
Title Modeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells.
Authors Kinnear C, Chang WY, Khattak S, Hinek A, Thompson T, de Carvalho Rodrigues D, Kennedy K, Mahmut N, Pasceri P, Stanford WL, Ellis J, Mital S
Journal Stem Cells Transl Med
Year 2012
Volume 2
Issue 1
Pages 2-15
URL http://www.ncbi.nlm.nih.gov/pubmed/23283491
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