SKIP000255
SKIP ID SKIP000255
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) GM24474
Cell Name 1(Ja) GM24474
Cell Name 2(En) -
Cell Name 2(Ja) -
Disease Name 1(Ja) 脊髄性筋委縮症Ⅰ型
ICD Code 1 G120
Disease Name 1(En) Spinal muscular Atrophy; SMA1
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 -
Age Range --
Sex Female
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) iPS cell line derived from GM03814 fibroblast.Clinically normal;2 affected children (her child's iPSC GM24468).Heterozygous deletion of SMN1
Description(Ja) 脊髄性筋委縮症Ⅰ型(GM03813)の母親線維芽細胞(GM03814)由来iPS細胞株。 SMN1 heterozygous deletion  有病の子供のiPS細胞株:GM24468
Cell Morphology human ES-like
Grade --
Vector Plasmid
Transgene hOCT3/4 with shp53, hSOX2, hKLF4, hL-MYC, episomal vector
Adhesiveness -
Feeder Yes
Feeder Cell Matrigel
Medium E8-Essential 8
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 -
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Karyotype Yes
Karyotype Assay 46XX
Remaining Vector Detection -
Remaining Vector Detection Assay -
STR -
HLA -
Stem Cell Transcriptome analysis -
Stem Cell Transcriptome analysis Assay -
Author Name(En) -
Author Name(Ja) -
Author Organization(En) -
Author Organization(Ja) -
Author Contact Email -
PI Organization(En) NIGMS Coriell Cell Repository
PI Organization(Ja) NIGMS Coriell Cell Repository
PI Name(En) NIGMS Human Genetic Cell Repository
PI Name(Ja) NIGMS Human Genetic Cell Repository
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/Search/Sample_Detail.aspx?Ref=GM24474&PgId=166
Ethical Statement(En) -
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Free input -
Note 子GM03813
GM03814由来