ID   GM21830
AC   CVCL_BT53
DR   Coriell; GM21830
DR   Wikidata; Q54852176
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM21830).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_BT51 ! GM21828
SX   Male
AG   41Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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