ID   SBG2-iPSC
AC   CVCL_C6UH
SY   SBG2-(8993 T > G)-hiPSC
DR   Wikidata; Q117704838
RX   PubMed=34662843;
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Heteroplasmic (PubMed=34662843).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C6UG ! SBG2
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=34662843; DOI=10.1016/j.scr.2021.102572; PMCID=PMC10332439;
RA   Meshrkey F., Cabrera Ayuso A., Rao R.R., Iyer S.;
RT   "Quantitative analysis of mitochondrial morphologies in human induced
RT   pluripotent stem cells for Leigh syndrome.";
RL   Stem Cell Res. 57:102572-102572(2021).
//