ID   TFA2
AC   CVCL_B7EQ
DR   Wikidata; Q112930465
RX   PubMed=28132834;
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Homoplasmic (PubMed=28132834).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C186788; Mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1
DI   ORDO; Orphanet_254913; Isolated ATP synthase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B7EP ! TDA2.3
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=28132834; DOI=10.1016/j.stem.2016.12.013;
RA   Lorenz C., Lesimple P., Bukowiecki R., Zink A., Inak G., Mlody B.,
RA   Singh M., Semtner M., Mah N., Aure K., Leong M., Zabiegalov O.,
RA   Lyras E.-M., Pfiffer V., Fauler B., Eichhorst J., Wiesner B.,
RA   Huebner N., Priller J., Mielke T., Meierhofer D., Izsvak Z.,
RA   Meier J.C., Bouillaud F., Adjaye J., Schuelke M., Wanker E.E.,
RA   Lombes A., Prigione A.;
RT   "Human iPSC-derived neural progenitors are an effective drug discovery
RT   model for neurological mtDNA disorders.";
RL   Cell Stem Cell 20:659-674.e9(2017).
//