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Cellosaurus TTD1BR LCL (CVCL_2555)

[Text version]
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
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
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