Cellosaurus cell line 165TOR (CVCL

Cross-references
Cell line name	165TOR
Accession	CVCL_ZP21
Resource Identification Initiative	To cite this cell line use: 165TOR (RRID:CVCL_ZP21)
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.Gln158Ter (c.472C>T); ClinVar=VCV000016777; Zygosity=Heterozygous (PubMed=17273966). Mutation; HGNC; HGNC:3433; ERCC1; Simple; p.Phe231Leu (c.693C>G); ClinVar=VCV000016778; Zygosity=Heterozygous (PubMed=17273966).
Disease	Cerebrooculofacioskeletal syndrome 4 (NCIt: C173104) COFS syndrome (ORDO: Orphanet_1466)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	1Y
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)
Encyclopedic resources	Wikidata; Q98125295
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8