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 Kleijer W.J., Beemer F.A., Boom B.W. 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 Takayama K., Salazar E.P., Broughton B.C., Lehmann A.R., Sarasin A., Thompson L.H., Weber C.A. 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