ID   NH50129
AC   CVCL_UY46
DR   NHCDR; NH50129
DR   Wikidata; Q98127549
CC   Population: Southeast Asian; Filipino.
CC   Sequence variation: Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; SINE-VNTR-Alu (SVA) retrotransposon insertion in intron 32; ClinVar=VCV000009862; Zygosity=Hemizygous (NHCDR=NH50129).
CC   Sequence variation: Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; 48-bp intronic deletion; Zygosity=Hemizygous (NHCDR=NH50129).
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   43Y
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 11
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