SKIP000185
SKIP ID SKIP000185
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) iPS-SMA3.6
Cell Name 1(Ja) iPS-SMA3.6
Cell Name 2(En) GM23240
Cell Name 2(Ja) GM23240
Disease Name 1(Ja) 脊髄性筋委縮症Ⅰ型
ICD Code 1 G120
Disease Name 1(En) Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
OMIM1 253300
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 3
Age Range 0-9
Sex Male
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) Coriell ID: GM23240 iPSCs derived from GM03813 Fibroblast. SMN1 exons 7-8 deleted.
Description(Ja) Coriell ID: GM23240 SMA1患者線維芽細胞(GM03813) 由来。 SMN1 exons 7-8欠失
Cell Morphology human ES-like
Grade --
Vector Lentivirus
Transgene Oct4, Sox2, Nanog, Lin28, lentivirus vector
Adhesiveness Yes
Feeder Yes
Feeder Cell CF1 MEFs on 0.1% Gelatin
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine
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 45,X[1]/47,XYY[1]/46,XY[48].arr(1-22)x2,(XY)x1
Remaining Vector Detection -
Remaining Vector Detection Assay -
STR -
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) Allison D Ebert
Author Name(Ja) Allison D Ebert
Author Organization(En) University of Wisconsin Madison
Author Organization(Ja) University of Wisconsin Madison
Author Contact Email -
PI Organization(En) -
PI Organization(Ja) -
PI Name(En) -
PI Name(Ja) -
PI Contact Email -
Availability Available
Provider Organization(En) NIGMS Coriell Cell Repository
Provider Organization(Ja) NIGMS Coriell Cell Repository
Provider Email -
Provider URL http://ccr.coriell.org/Sections/Collections/NIGMS/ipsc_list.aspx?PgId=696
Ethical Statement(En) -
Ethical Statement(Ja) -
Terms of Use(En) -
Terms of Use(Ja) -
PubMed ID 20558385
--
19098894
DOI 10.1001/archneurol.2010.89
--
10.1038/nature07677
Title Stem Cell Model of Spinal Muscular Atrophy
--
Induced pluripotent stem cells from a spinal muscular atrophy patient.
Authors Ebert, A.D. and Svendsen, C.N.
--
Ebert AD, Yu J, Rose FF Jr, Mattis VB, Lorson CL, Thomson JA, Svendsen CN
Journal Arch Neurol
--
Nature
Year 2010
--
2008
Volume 67
--
457
Issue 6
--
7227
Pages 665-669
--
277-80
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=20558385
--
http://www.ncbi.nlm.nih.gov/pubmed/?term=19098894
Free input
--
Note -