ID   GM21751
AC   CVCL_HL30
DR   Coriell; GM21751
DR   Wikidata; Q54852122
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM21751).
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)
OI   CVCL_HL31 ! GM21752
SX   Male
AG   46Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 10
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