ID   GM22661
AC   CVCL_1N08
DR   Coriell; GM22661
DR   Wikidata; Q54852711
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12666; VCP; Simple; p.Leu198Trp (c.593T>G); Zygosity=Heterozygous (Coriell=GM22661).
CC   Donor information: At sampling donor was not affected with myopathy but at significant risk for disease.
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_1N07 ! GM22660
SX   Female
AG   37Y
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 11
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