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Cellosaurus ICSSUi005-A (CVCL_D6NV)

[Text version]
Cell line name ICSSUi005-A
Synonyms iPSCm.3243A>G
Accession CVCL_D6NV
Resource Identification Initiative To cite this cell line use: ICSSUi005-A (RRID:CVCL_D6NV)
Comments From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7490; MT-TL1; Simple; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=In 80% of cells (PubMed=38489977).
Disease Maternal diabetes and deafness syndrome (NCIt: C130996)
Maternally-inherited diabetes and deafness (ORDO: Orphanet_225)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=38489977; DOI=10.1016/j.scr.2024.103387
Song M., Chen S.-S., Zhang M.-N., Hu S.-J., Lei W., Yu M.
Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene.
Stem Cell Res. 77:103387-103387(2024)

Cross-references
Cell line databases/resources hPSCreg; ICSSUi005-A
Biological sample resources BioSamples; SAMEA115117015
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1