ID   TTD9VILas
AC   CVCL_ZP44
DR   Wikidata; Q98133682
RX   PubMed=7671243;
RX   PubMed=18676829;
CC   Sequence variation: Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000016784; Zygosity=Homozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156433; Trichothiodystrophy 1, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZP43 ! TTD9VI
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=18676829; DOI=10.1158/0008-5472.CAN-07-6695;
RA   Chigancas V., de Lima-Bessa K.M., Stary A., Menck C.F.M., Sarasin A.;
RT   "Defective transcription/repair factor IIH recruitment to specific UV
RT   lesions in trichothiodystrophy syndrome.";
RL   Cancer Res. 68:6074-6083(2008).
//