ID   GM20926
AC   CVCL_HM40
DR   CLO; CLO_0015373
DR   Coriell; GM20926
DR   Wikidata; Q54851458
CC   Population: Caucasian; Lithuanian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM20926).
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)
SX   Female
AG   35Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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