Cellosaurus cell line TVGHi005-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; TVGHi005-A
Encyclopedic resources	Wikidata; Q98133699
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	9