ID   TTD1BR LCL
AC   CVCL_2555
SY   TrichoThioDystrophy 1 BRighton LCL; LB199; 199
DR   ECACC; 98062321
DR   Wikidata; Q54902043
RX   PubMed=11416159;
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (from autologous cell line TTD1BR).
CC   Sequence variation: Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (from autologous cell line TTD1BR).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=11416159
ST   Amelogenin: X,Y
ST   D18S51: 13,21
ST   D21S11: 30,31
ST   D8S1179: 11,14
ST   FGA: 20,21
ST   TH01: 9.3
ST   vWA: 17,18
DI   NCIt; C173099; Trichothiodystrophy 3, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W046 ! TTD1BR
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
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RX   PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459;
RA   Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G.,
RA   Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R.,
RA   Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.;
RT   "Short tandem repeat profiling provides an international reference
RT   standard for human cell lines.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001).
//