ID   ND12329
AC   CVCL_BK24
DR   CLO; CLO_0021824
DR   Coriell; ND12329
DR   Wikidata; Q54924903
RX   PubMed=22572540;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Asn387Thr (c.1160A>C) (c.1549A>C); ClinVar=VCV000448854; Zygosity=Heterozygous (PubMed=22572540).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168754; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   62Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 10-04-25; Version: 11
//
RX   PubMed=22572540; DOI=10.1016/j.neurobiolaging.2012.04.005; PMCID=PMC3391327;
RA   Abramzon Y., Johnson J.O., Scholz S.W., Taylor J.P., Brunetti M.,
RA   Calvo A., Mandrioli J., Benatar M., Mora G., Restagno G., Chio A.,
RA   Traynor B.J.;
RT   "Valosin-containing protein (VCP) mutations in sporadic amyotrophic
RT   lateral sclerosis.";
RL   Neurobiol. Aging 33:2231.e1-2231.e6(2012).
//