ID   GM23253
AC   CVCL_BV21
DR   Coriell; GM23253
DR   Wikidata; Q54852938
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg159Cys (c.475C>T) (c.864C>T); ClinVar=VCV000280123; Zygosity=Heterozygous (Coriell=GM23253).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_BV20 ! GM23252
SX   Male
AG   54Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 12
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