Cellosaurus cell line 173TOR (CVCL

Cross-references
Cell line name	173TOR
Synonyms	GM21645
Accession	CVCL_DB99
Resource Identification Initiative	To cite this cell line use: 173TOR (RRID:CVCL_DB99)
Comments	Population: Caucasian; Italian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Phe231Leu (c.693C>G); ClinVar=VCV000016778; Zygosity=Heterozygous (PubMed=17273966).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Adult
Category	Finite cell line
Publications	PubMed=17273966; DOI=10.1086/512486; PMCID=PMC1821117 Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H.J., Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am. J. Hum. Genet. 80:457-466(2007)
Cell line collections (Providers)	Coriell; GM21645
Cell line databases/resources	CLO; CLO_0013966
Encyclopedic resources	Wikidata; Q54852048
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	10