ID   ND41006
AC   CVCL_EZ66
DR   NHCDR; ND41006
DR   Wikidata; Q54930187
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg191Gln (c.572G>A); ClinVar=VCV000008473; Zygosity=Unspecified (NHCDR=ND41006).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168754; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 13
//