Cellosaurus logo
expasy logo

Cellosaurus TTD1BR LCL (CVCL_2555)

[Text][XML][JSON]
Cell line name TTD1BR LCL
Synonyms TrichoThioDystrophy 1 BRighton LCL; LB199; 199
Accession CVCL_2555
Resource Identification Initiative To cite this cell line use: TTD1BR LCL (RRID:CVCL_2555)
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.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (from autologous cell line TTD1BR).
  • Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (from autologous cell line TTD1BR).
Disease Trichothiodystrophy 3, photosensitive (NCIt: C173099)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_W046 ! TTD1BR
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
STR profile Source(s): PubMed=11416159

Markers:
AmelogeninX,Y
D8S117911,14
D18S5113,21
D21S1130,31
FGA20,21
TH019.3
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
John R.W. Masters, Jim A. Thomson, Bernadette Daly-Burns, Yvonne A. Reid, Wilhelm Gerhard Dirks, Phil Packer, Lorraine Hellenga Toji, Tadao Ohno, Hideyuki Tanabe, Colin Francis Arlett, Lloyd R. Kelland ...Show all 16 authors... , Maureen Harrison, Arvind K. Virmani, Timothy H. Ward, Karen L. Ayres, Paul G. Debenham; Show fewer authors
Short tandem repeat profiling provides an international reference standard for human cell lines.
Proc. Natl. Acad. Sci. U.S.A. 98:8012-8017(2001)

Cross-references
Cell line collections (Providers) ECACC; 98062321
Encyclopedic resources Wikidata; Q54902043
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number18