Cellosaurus cell line GM17890 (CVCL

Cell line name

GM17890

Accession

CVCL_0R47

To cite this cell line use: GM17890 (RRID:CVCL_0R47)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Arg509Ter (c.1525C>T); ClinVar=VCV000006377; Zygosity=Heterozygous (Coriell=GM17890).
Mutation; HGNC; HGNC:566; AP3B1; Simple; p.Glu659Ter (c.1975G>T); ClinVar=VCV000006378; Zygosity=Heterozygous (Coriell=GM17890).

Disease

Hermansky-Pudlak syndrome 2 (NCIt: C150368)
Hermansky-Pudlak syndrome with neutropenia (ORDO: Orphanet_183678)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_DQ89 (CHOPHPS2)

Sex of cell

Male

Age at sampling