ID   GM22549
AC   CVCL_BU60
DR   Coriell; GM22549
DR   Wikidata; Q54852597
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155Cys (c.463C>T); ClinVar=VCV000008469; Zygosity=Heterozygous (Coriell=GM22549).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: At sampling donor was not affected with myopathy but at significant risk for disease.
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_BU61 ! GM22550
SX   Female
AG   34Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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