ID   SBG3
AC   CVCL_C6UI
DR   Wikidata; Q117704839
RX   PubMed=34200828;
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Heteroplasmic (PubMed=34200828).
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)
CA   Finite cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=34200828; DOI=10.3390/ijms22126263; PMCID=PMC8230542;
RA   Bakare A.B., Daniel J., Stabach J., Rojas A., Bell A., Henry B.,
RA   Iyer S.;
RT   "Quantifying mitochondrial dynamics in patient fibroblasts with
RT   multiple developmental defects and mitochondrial disorders.";
RL   Int. J. Mol. Sci. 22:6263.1-6263.26(2021).
//