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Cellosaurus TVGHi005-A (CVCL_VN37)

[Text version]
Cell line name TVGHi005-A
Synonyms TVGH-iPSC-MRF-Mlow; TVGH-iPSC-MRF-Ml
Accession CVCL_VN37
Resource Identification Initiative To cite this cell line use: TVGHi005-A (RRID:CVCL_VN37)
Comments From: Taipei Veterans General Hospital; Taipei; Taiwan.
Population: Chinese; Taiwan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7489; MT-TK; Simple; m.8344A>G; ClinVar=VCV000009579; Zygosity=Heteroplasmic; Note=1% (PubMed=29960149).
Disease Myoclonic epilepsy associated with ragged-red fibers (NCIt: C84889)
MERRF (ORDO: Orphanet_551)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VN38 ! TVGHi006-A
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=29960149; DOI=10.1016/j.scr.2018.05.011
Chou S.-J., Ko Y.-L., Yang Y.-H., Yarmishyn A.A., Wu Y.-T., Chen C.-T., Lee H.-C., Wei Y.-H., Chiou S.-H.
Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA.
Stem Cell Res. 30:201-205(2018)

Cross-references
Cell line databases/resources hPSCreg; TVGHi005-A
Encyclopedic resources Wikidata; Q98133699
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number8