Cellosaurus cell line T8993G iPSC clone 1 (CVCL

Cross-references
Cell line name	T8993G iPSC clone 1
Accession	CVCL_A4QJ
Resource Identification Initiative	To cite this cell line use: T8993G iPSC clone 1 (RRID:CVCL_A4QJ)
Comments	Population: Chinese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=27008180).
Disease	Leigh disease (NCIt: C84814) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_8A61 (GM13411)
Sex of cell	Male
Age at sampling	8M
Category	Induced pluripotent stem cell
Publications	PubMed=27008180; DOI=10.7554/eLife.13378; PMCID=PMC4846388 Zheng X.-D., Boyer L., Jin M.-J., Kim Y., Fan W.-W., Bardy C., Berggren W.T., Evans R.M., Gage F.H., Hunter T. Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration. eLife 5:e13378.1-e13378.23(2016)
Cell line databases/resources	SKIP; SKIP000985
Encyclopedic resources	Wikidata; Q105511151
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6