ID   UCLi010-B
SY   R191Q 2; GL1B
DR   BioSamples; SAMEA4675630
DR   hPSCreg; UCLi010-B
DR   Wikidata; Q54989681
RX   PubMed=28360103;
CC   From: University College London; London; UK.
CC   Sequence variation: Heterozygous for VCP p.Arg191Gln (c.572G>A) (PubMed=28360103).
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_VF15 ! UCLi010-A
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 12-03-20; Version: 4
RX   PubMed=28360103; DOI=10.1074/jbc.M116.762898;
RA   Ludtmann M.H.R., Arber C., Bartolome F., de Vicente M., Preza E.,
RA   Carro E., Houlden H., Gandhi S., Wray S., Abramov A.Y.;
RT   "Mutations in valosin-containing protein (VCP) decrease ADP/ATP
RT   translocation across the mitochondrial membrane and impair energy
RT   metabolism in human neurons.";
RL   J. Biol. Chem. 292:8907-8917(2017).