| SKIP000190 | |
| SKIP ID | SKIP000190 |
| Organism(En) | - |
| Organism(Ja) | - |
| Cell Type(En) | - |
| Cell Type(Ja) | - |
| Cell Tissue(En) | - |
| Cell Tissue(Ja) | - |
| Cell Origin | Diseased |
| Cell Name 1(En) | GM23717 |
| Cell Name 1(Ja) | GM23717 |
| Cell Name 2(En) | - |
| Cell Name 2(Ja) | - |
| Disease Name 1(Ja) | 先天性筋ジストロフィー |
| ICD Code 1 | G712 |
| Disease Name 1(En) | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
| OMIM1 | 607855 |
| 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 | Female |
| Race(En) | - |
| Race(Ja) | - |
| Genetic Diagnosis | Yes |
| Not Detected | No |
| Description(En) | iPSCs derived from GM23311 Fibroblast. Sympton onset before 2 years old. maternal allele: a 2bp deletion in exon 14 of LAMA2 gene (2049_2050delAG); paternal allele: 7732C>T in exon 55 resulting prematire stop at codon 2578 (R2578X) |
| Description(Ja) | 先天性筋ジストロフィーMDC1A線維芽細胞（GM23311) 由来。2歳前に発症。LAMA2遺伝子変異。 母方アリルはエクソン14に２bpの欠失(2049_2050delAG); 父方アリルはエクソン55 7732C>T置換、 2578 (R2578X)残基での停止。 |
| Cell Morphology | human ES-like |
| Grade | -- |
| Vector | Plasmid |
| Transgene | Oct4, Sox2, Klf, c-Myc, Nanog, Lin-28,T-antigen, episomal vector |
| Adhesiveness | Yes |
| Feeder | Yes |
| Feeder Cell | CF1 MEFs on 0.1% Gelatin |
| Medium | Dulbecco Modified Eagles Medium (high glucose) 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) | - |
| 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/Collections/NIGMS/ipsc_list.aspx?PgId=696 |
| Ethical Statement(En) | - |
| Ethical Statement(Ja) | - |
| Terms of Use(En) | - |
| Terms of Use(Ja) | - |
| PubMed ID | - |
| DOI | - |
| Title | - |
| Authors | - |
| Journal | - |
| Year | - |
| Volume | - |
| Issue | - |
| Pages | - |
| URL | - |
| Free input | - |
| Note | - |