| SKIP000189 | |
| SKIP ID | SKIP000189 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | - |
| Cell Tissue(Ja) | - |
| Cell Origin | Diseased |
| Cell Name 1(En) | GM23404 |
| Cell Name 1(Ja) | GM23404 |
| 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 (autosomal recessive) |
| 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 | 36 |
| Age Range | 30-39 |
| Sex | Female |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | iPSCs derived from GM03816 Fibroblast. A brother (GM04078/GM04079) is similarly affected; homozygous for the GAATTC expansion in the 1st intron in frataxin gene. |
| Description(Ja) | フリードライヒ運動失調症患者維芽細胞（GM03816) 由来, 兄弟（GM04078/GM04079)も有病。frataxin遺伝子第１イントロン中のGAA•TTCリピート数が両アリルで増大 |
| Cell Morphology | human ES-like |
| Grade | -- |
| Vector | Retrovirus |
| Transgene | Oct4, Sox2, Klf, 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 | 46XX |
| 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) | The Scripps Research Institute |
| Author Organization(Ja) | The Scripps Research 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 | 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 | - |