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Cellosaurus MiPSC5-T1 (CVCL_A4RF)

[Text version]
Cell line name MiPSC5-T1
Accession CVCL_A4RF
Resource Identification Initiative To cite this cell line use: MiPSC5-T1 (RRID:CVCL_A4RF)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7490; MT-TL1; Simple_edited; m.3243A>G; ClinVar=VCV000009589; Zygosity=Heteroplasmic; Note=By TALEN. The percentage of heteroplasmy was reduced from >80% to 27% (PubMed=29318513).
Disease MELAS syndrome (NCIt: C84885)
MELAS (ORDO: Orphanet_550)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4RE (MiPSC5)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=29318513; DOI=10.1007/s13238-017-0499-y; PMCID=PMC5829275
Yang Y., Wu H., Kang X.-J., Liang Y.-H., Lan T., Li T.-J., Tan T., Peng J.-Y., Zhang Q.-J., An G., Liu Y.-L., Yu Q., Ma Z.-L., Lian Y., Soh B.S., Chen Q.-F., Liu P., Chen Y.-Y., Sun X.-F., Li R., Zhen X.-M., Liu P., Yu Y., Li X.-P., Fan Y.
Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs.
Protein Cell 9:283-297(2018)

Cross-references
Cell line databases/resources SKIP; SKIP002969
Encyclopedic resources Wikidata; Q105510147
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6