Cellosaurus cell line NH50192 (CVCL

Cell line name

NH50192

Accession

CVCL_YP42

To cite this cell line use: NH50192 (RRID:CVCL_YP42)

Comments

Population: Cape Verdian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Homozygous (NHCDR=NH50192).

Disease

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_T855 (ND39027)
Children:

CVCL_YU02 (NH50290)

CVCL_YU03 (NH50291)

CVCL_YU04 (NH50292)

Sex of cell

Female

Age at sampling

50Y