ID   ND50107
AC   CVCL_SA44
DR   NHCDR; ND50107
DR   Wikidata; Q54930335
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=ND50107).
CC   Sequence variation: Mutation; HGNC; HGNC:11535; TAF1; Unexplicit; 48-bp intronic deletion; Zygosity=Hemizygous (NHCDR=ND50107).
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   56Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
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