Cellosaurus cell line TTD351BE (CVCL

Cross-references
Cell line name	TTD351BE
Synonyms	TrichoThioDystrophy 351 BEthesda; JA1389
Accession	CVCL_RG81
Resource Identification Initiative	To cite this cell line use: TTD351BE (RRID:CVCL_RG81)
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.Arg378His (c.1133G>A); ClinVar=VCV001812770; Zygosity=Heterozygous (PubMed=18470933). Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg722Trp (c.2164C>T); ClinVar=VCV000016792; Zygosity=Heterozygous (PubMed=18470933).
Disease	Trichothiodystrophy 1, photosensitive (NCIt: C156433) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Finite cell line
Publications	PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783 Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum. Mutat. 29:1194-1208(2008)
Encyclopedic resources	Wikidata; Q54898501
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11