Cellosaurus cell line ND41015 (CVCL

Cell line name

ND41015

Accession

CVCL_EZ70

To cite this cell line use: ND41015 (RRID:CVCL_EZ70)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Glu365Lys (c.1093G>A) (E326K); ClinVar=VCV000199044; Zygosity=Heterozygous (NHCDR=ND41015).

Disease

Parkinson disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_RH37 (ND50043)

CVCL_RH38 (ND50044)

CVCL_RH39 (ND50045)

Sex of cell

Male

Age at sampling

63Y