ID   GM23290
AC   CVCL_BV37
DR   Coriell; GM23290
DR   Wikidata; Q54852971
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM23290).
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_BV36 ! GM23289
SX   Male
AG   35Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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