Cellosaurus cell line TTD1RO (CVCL

Cellosaurus TTD1RO (CVCL_V270)

Cross-references
Cell line name	TTD1RO
Synonyms	TrichoThioDystrophy 1 ROtterdam; GM17424
Accession	CVCL_V270
Resource Identification Initiative	To cite this cell line use: TTD1RO (RRID:CVCL_V270)
Comments	Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg658Cys (c.1972C>T); ClinVar=VCV000016785; Zygosity=Heterozygous (PubMed=8571952). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly713Arg (c.2137G>C); ClinVar=VCV000016786; Zygosity=Heterozygous (PubMed=8571952).
Disease	Trichothiodystrophy 1, photosensitive (NCIt: C156433) Xeroderma pigmentosum, complementation group D (NCIt: C3967) Trichothiodystrophy (ORDO: Orphanet_33364) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	2Y
Category	Finite cell line
Publications	PubMed=7802014; DOI=10.1002/ajmg.1320520220 Wim J. Kleijer, Frits A. Beemer, Bart W. Boom; Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D. Am. J. Med. Genet. 52:227-230(1994) PubMed=8571952; PMCID=PMC1914548 Kyoko Takayama, Edmund P. Salazar, Bernard C. Broughton, Alan R. Lehmann, Alain Sarasin, Lawrence H. Thompson, Christine A. Weber; Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am. J. Hum. Genet. 58:263-270(1996)
Cell line collections (Providers)	Coriell; GM17424
Cell line databases/resources	CLO; CLO_0012333
Encyclopedic resources	Wikidata; Q54848861
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	14