SKIP000184
SKIP ID SKIP000184
Organism(En) -
Organism(Ja) -
Cell Type(En) -
Cell Type(Ja) -
Cell Tissue(En) -
Cell Tissue(Ja) -
Cell Origin Diseased
Cell Name 1(En) GM23232
Cell Name 1(Ja) GM23232
Cell Name 2(En) -
Cell Name 2(Ja) -
Disease Name 1(Ja) ADA欠乏症
ICD Code 1 D813
Disease Name 1(En) Adenosine deaminase [ADA] deficiency
OMIM1 102700
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 0-9
Sex Male
Race(En) -
Race(Ja) -
Genetic Diagnosis Yes
Not Detected No
Description(En) iPSCs derived from GM01390 Fibroblast. T cell negtive, B cell negative, NK cell negtive, due to adenosine deaminase deficiency
Description(Ja) adenosine deaminase 欠損患者線維芽細胞(GM01390) 由来。常染色体劣性adenosine deaminase 欠失。患者は重度の免疫不全、T細胞、B細胞、NK細胞陰性。
Cell Morphology human ES-like
Grade --
Vector Retrovirus
Transgene Oct4, Sox2, Klf-4, c-Myc, retroviral 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 46,XY.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) George Q Daley
Author Name(Ja) George Q Daley
Author Organization(En) Harvard Stem Cell Institute
Author Organization(Ja) Harvard Stem Cell Institute
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 18691744
DOI 10.1016/j.cell.2008.07.041
Title Disease-Specific Induced Pluripotent Stem Cells
Authors Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ
Journal Cell
Year 2008
Volume 34
Issue 5
Pages 877-86
URL http://www.ncbi.nlm.nih.gov/pubmed/?term=18691744
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