SKIP000262 | |
SKIP ID | SKIP000262 |
Organism(En) | - |
Organism(Ja) | - |
Cell Type(En) | - |
Cell Type(Ja) | - |
Cell Tissue(En) | - |
Cell Tissue(Ja) | - |
Cell Origin | Diseased |
Cell Name 1(En) | GM23913 |
Cell Name 1(Ja) | GM23913 |
Cell Name 2(En) | - |
Cell Name 2(Ja) | - |
Disease Name 1(Ja) | フリードライヒ運動失調症 |
ICD Code 1 | G111 |
Disease Name 1(En) | Friedreich ataxia |
OMIM1 | 229300 |
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 | 30 |
Age Range | 30-39 |
Sex | Male |
Race(En) | - |
Race(Ja) | - |
Genetic Diagnosis | Yes |
Not Detected | No |
Description(En) | iPS cell line derived from GM04078 fibroblast. Clinically affected with Friedreich ataxia(FRDA). homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats. |
Description(Ja) | フリードライヒ運動失調症患者由来iPS細胞株。GM04078 由来 Homozygous for thr GAA expansion in the frataxin gene |
Cell Morphology | human ES-like |
Grade | -- |
Vector | Retrovirus |
Transgene | Oct4, Sox2, Klf4, c-Myc, retroviral vector |
Adhesiveness | - |
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 |
Remaining Vector Detection | - |
Remaining Vector Detection Assay | - |
STR | - |
HLA | - |
Stem Cell Transcriptome analysis | - |
Stem Cell Transcriptome analysis Assay | - |
Author Name(En) | Joel M. Gottesfeld |
Author Name(Ja) | Joel M. Gottesfeld |
Author Organization(En) | Department of Molecular Biology The Scripps Research Institute |
Author Organization(Ja) | Department of Molecular Biology The Scripps Research Institute |
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=GM23913&PgId=166 |
Ethical Statement(En) | - |
Ethical Statement(Ja) | - |
Terms of Use(En) | - |
Terms of Use(Ja) | - |
PubMed ID | 21040903 |
DOI | 10.1016/j.stem.2010.09.014 |
Title | Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA-TTC triplet repeat instability. |
Authors | Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM |
Journal | Cell Stem Cell |
Year | 2010 |
Volume | 7 |
Issue | 5 |
Pages | 631-7 |
URL | http://www.ncbi.nlm.nih.gov/pubmed/?term=21040903 |
Free input | - |
Note | Brother (proban) is GM03816. 保存:Collagenase or Tryple |