ID   TDA3.1
AC   CVCL_B7ER
SY   HHUi001-A
DR   hPSCreg; HHUi002-A
DR   Wikidata; Q112930461
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)
SX   Female
AG   20Y
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).
//