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Cellosaurus NH50189 (CVCL_UW91)

[Text version]
Cell line name NH50189
Accession CVCL_UW91
Resource Identification Initiative To cite this cell line use: NH50189 (RRID:CVCL_UW91)
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:18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50189).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QX26 (ND50051)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50189
Encyclopedic resources Wikidata; Q98127630
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10