ID   NH50292
AC   CVCL_YU04
DR   NHCDR; NH50292
DR   Wikidata; Q98127756
CC   Population: Cape Verdian.
CC   Characteristics: Non-edited control for NH50290 (Cellosaurus=CVCL_YU02) and NH50291 (Cellosaurus=CVCL_YU03).
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Homozygous (NHCDR=NH50292).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_YP42 ! NH50192
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 10
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