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Cellosaurus NH50129 (CVCL_UY46)

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Cell line name NH50129
Accession CVCL_UY46
Resource Identification Initiative To cite this cell line use: NH50129 (RRID:CVCL_UY46)
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; 48-bp intronic deletion; Zygosity=Hemizygous (NHCDR=NH50129).
  • Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; SINE-VNTR-Alu (SVA) retrotransposon insertion in intron 32; ClinVar=VCV000009862; Zygosity=Hemizygous (NHCDR=NH50129).
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 43Y
Category Finite cell line
Cross-references
Cell line collections (Providers) NHCDR; NH50129
Encyclopedic resources Wikidata; Q98127549
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number12