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Cellosaurus TTD14PV LCL (CVCL_4Z73)

[Text version]
Cell line name TTD14PV LCL
Synonyms TrichoThioDystrophy 14 PaVia LCL; GM14577
Accession CVCL_4Z73
Resource Identification Initiative To cite this cell line use: TTD14PV LCL (RRID:CVCL_4Z73)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV002136487; Zygosity=Homozygous (from autologous cell line TTD14PV).
Disease Trichothiodystrophy 3, photosensitive (NCIt: C173099)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_4Z79 ! TTD14PV
Sex of cell Male
Age at sampling 19Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14577
Cell line databases/resources CLO; CLO_0031583
Encyclopedic resources Wikidata; Q54847318
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number12