Cellosaurus cell line (CVCL

Cross-references
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (PubMed=24936472).
Disease	Niemann-Pick disease, type C1 (NCIt: C126864) Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin	Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DA78 (GM18453)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	Andrew E. Rosenberg, Gunnlaugur Petur Nielsen, Ramnik J. Xavier, Henry J. Mankin, Zhen-Feng Duan; Characterization and analysis of human chordoma cell lines. Spine 35:1257-1264(2010)
Encyclopedic resources	Wikidata; Q54930983
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10