Cellosaurus cell line MK071 (CVCL

Cell line name

MK071

Synonyms

GBA-PD 1 fibroblasts

Accession

CVCL_A8Z6

To cite this cell line use: MK071 (RRID:CVCL_A8Z6)

Comments

Omics: Variations; SNP array analysis.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (from child cell line UOXFi001-A).

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_EE27 (UOXFi001-A)	CVCL_EE28 (UOXFi001-B)	CVCL_EE29 (UOXFi001-C)
CVCL_EE30 (UOXFi001-D)

Sex of cell

Female

Age at sampling

81Y