ID   SBG10
AC   CVCL_C6UT
DR   Wikidata; Q117704836
RX   PubMed=34200828;
CC   Sequence variation: Mutation; HGNC; HGNC:Group_1972; MT-@; Unexplicit; m.10167_15568del; Zygosity=Heteroplasmic (PubMed=34200828).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84798; Kearns-Sayre syndrome
DI   NCIt; C115326; Pearson syndrome
DI   ORDO; Orphanet_480; Kearns-Sayre syndrome
DI   ORDO; Orphanet_699; Pearson 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).
//