ID   GM22393
AC   CVCL_T893
DR   Coriell; GM22393
DR   Wikidata; Q54852560
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM22393).
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_T894 ! GM22394
SX   Male
AG   37Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 12
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