Cellosaurus cell line TTD13PV (CVCL

Cellosaurus TTD13PV (CVCL_4Z80)

Cross-references
Cell line name	TTD13PV
Synonyms	TrichoThioDystrophy 13 PaVia; TTD331BE; GM15908
Accession	CVCL_4Z80
Resource Identification Initiative	To cite this cell line use: TTD13PV (RRID:CVCL_4Z80)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Met1Thr (c.2T>C); ClinVar=VCV002136487; Zygosity=Homozygous (PubMed=15220921; PubMed=18470933).
Disease	Trichothiodystrophy 3, photosensitive (NCIt: C173099) Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_4Z72 ! TTD13PV LCL
Sex of cell	Male
Age at sampling	19Y
Category	Finite cell line
Publications	PubMed=15220921; DOI=10.1038/ng1387 Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat. Genet. 36:714-719(2004) 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)
Cell line collections (Providers)	Coriell; GM15908
Cell line databases/resources	CLO; CLO_0018616
Encyclopedic resources	Wikidata; Q54848269
Entry history
Entry creation	14-Dec-2015
Last entry update	19-Dec-2024
Version number	10