ID   VCP-#1
AC   CVCL_T897
SY   HPS0351
DR   RCB; HPS0351
DR   SKIP; SKIP000225
DR   Wikidata; Q54992967
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (from parent cell line).
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)
HI   CVCL_T894 ! GM22394
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 29-06-23; Version: 12
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