ID   NH50290
AC   CVCL_YU02
DR   NHCDR; NH50290
DR   Wikidata; Q98127754
CC   Population: Cape Verdian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Heterozygous (NHCDR=NH50290).
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple_corrected; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50290).
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_803; Amyotrophic lateral sclerosis
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: 19-12-24; Version: 9
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