ID   NH50194
AC   CVCL_YP40
DR   NHCDR; NH50194
DR   Wikidata; Q98127635
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; 48-bp intronic deletion; Zygosity=Hemizygous (NHCDR=NH50194).
CC   Sequence variation: Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; SINE-VNTR-Alu (SVA) retrotransposon insertion in intron 32; ClinVar=VCV000009862; Zygosity=Hemizygous (NHCDR=NH50194).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126330; X-linked dystonia parkinsonism
DI   ORDO; Orphanet_53351; X-linked dystonia-parkinsonism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 10
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