ID   UCLi010-A
AC   CVCL_VF15
SY   R191Q 1; GL1A; MUT 3
DR   BioSamples; SAMEA4675628
DR   hPSCreg; UCLi010-A
DR   Wikidata; Q54989680
RX   PubMed=28360103;
RX   PubMed=28564594;
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; 12666; VCP; Simple; p.Arg191Gln (c.572G>A); ClinVar=VCV000008473; Zygosity=Heterozygous (PubMed=28360103).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VF16 ! UCLi010-B
SX   Male
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 12
//
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).
//
RX   PubMed=28564594; DOI=10.1016/j.celrep.2017.05.024;
RA   Hall C.E., Yao Z., Choi M., Tyzack G.E., Serio A., Luisier R.,
RA   Harley J., Preza E., Arber C., Crisp S.J., Watson P.M.D.,
RA   Kullmann D.M., Abramov A.Y., Wray S., Burley R., Loh S.H.Y.,
RA   Martins L.M., Stevens M.M., Luscombe N.M., Sibley C.R., Lakatos A.,
RA   Ule J., Gandhi S., Patani R.;
RT   "Progressive motor neuron pathology and the role of astrocytes in a
RT   human stem cell model of VCP-related ALS.";
RL   Cell Rep. 19:1739-1749(2017).
//