ID   GM22578
AC   CVCL_BU73
DR   Coriell; GM22578
DR   Wikidata; Q54852635
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM22578).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C122663; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
DI   ORDO; Orphanet_329478; Adult-onset distal myopathy due to VCP mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//