ID   TTD13PV LCL
AC   CVCL_4Z72
SY   TrichoThioDystrophy 14 PaVia LCL; GM14576
DR   CLO; CLO_0031582
DR   Coriell; GM14576
DR   Wikidata; Q54847317
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV002136487; Zygosity=Homozygous (from autologous cell line TTD13PV).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173099; Trichothiodystrophy 3, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_4Z80 ! TTD13PV
SX   Male
AG   17Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 12
//