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Cellosaurus ND50107 (CVCL_SA44)

[Text version]
Cell line name ND50107
Accession CVCL_SA44
Resource Identification Initiative To cite this cell line use: ND50107 (RRID:CVCL_SA44)
Comments Population: Southeast Asian; Filipino.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; SINE-VNTR-Alu (SVA) retrotransposon insertion in intron 32; ClinVar=VCV000009862; Zygosity=Hemizygous (NHCDR=ND50107).
  • Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; 48-bp intronic deletion; Zygosity=Hemizygous (NHCDR=ND50107).
Disease X-linked dystonia parkinsonism (NCIt: C126330)
X-linked dystonia-parkinsonism (ORDO: Orphanet_53351)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; ND50107
Encyclopedic resources Wikidata; Q54930335
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number13