Cellosaurus cell line ND38547 (CVCL

Cell line name

ND38547

Synonyms

ND38547*H

Accession

CVCL_Y816

To cite this cell line use: ND38547 (RRID:CVCL_Y816)

Comments

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

Sequence variations

Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND38547).

Disease

Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Parent: CVCL_Y854 (GM04777)
Children:

CVCL_C0MF (NH50375)

Sex of cell

Male

Age at sampling

53Y