ID   ND50059
AC   CVCL_SA16
DR   NHCDR; ND50059
DR   Wikidata; Q54930281
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Arg191Gln (c.572G>A); ClinVar=VCV000008473; Zygosity=Unspecified (from parent cell line).
CC   Discontinued: NHCDR; ND50059; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_EZ66 ! ND41006
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
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