ID   GM21752
AC   CVCL_HL31
DR   Coriell; GM21752
DR   Wikidata; Q54852123
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg155His (c.464G>A); ClinVar=VCV000008468; Zygosity=Heterozygous (Coriell=GM21752).
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_HL30 ! GM21751
SX   Male
AG   46Y
CA   Finite cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
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