ID   T8993G iPSC clone 2
AC   CVCL_A4QK
DR   SKIP; SKIP000986
DR   Wikidata; Q105511154
RX   PubMed=27008180;
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=27008180).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_8A61 ! GM13411
SX   Male
AG   8M
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=27008180; DOI=10.7554/eLife.13378; PMCID=PMC4846388;
RA   Zheng X.-D., Boyer L., Jin M.-J., Kim Y., Fan W.-W., Bardy C.,
RA   Berggren W.T., Evans R.M., Gage F.H., Hunter T.;
RT   "Alleviation of neuronal energy deficiency by mTOR inhibition as a
RT   treatment for mitochondria-related neurodegeneration.";
RL   eLife 5:e13378.1-e13378.23(2016).
//