ID   ND10734
AC   CVCL_U113
DR   CLO; CLO_0035041
DR   Coriell; ND10734
DR   Wikidata; Q54923393
CC   Population: Cape Verdian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Homozygous (from autologous cell line ND39027).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T855 ! ND39027
SX   Female
AG   46Y
CA   Transformed cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 16
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