ID   C5RO
AC   CVCL_ZP35
SY   Control 5 ROtterdam
DR   Wikidata; Q98125597
RX   DOI=10.1007/978-1-4757-5016-4_9;
RX   PubMed=3337113;
RX   PubMed=3803387;
RX   PubMed=7671243;
RX   PubMed=8317483;
RX   PubMed=8823375;
RX   PubMed=9012405;
RX   PubMed=9579555;
RX   PubMed=12060391;
RX   PubMed=14688028;
RX   PubMed=15220921;
RX   PubMed=17273966;
RX   PubMed=20221251;
RX   PubMed=31374204;
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
RX   DOI=10.1007/978-1-4757-5016-4_9;
RA   Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M.,
RA   Hoeijmakers J.H.J., Bootsma D.;
RT   "In vitro correction of cells from patients with mutagen
RT   hypersensitivity.";
RL   (In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989).
//
RX   PubMed=3337113; PMCID=PMC1715319;
RA   Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.;
RT   "Patients with an inherited syndrome characterized by
RT   immunodeficiency, microcephaly, and chromosomal instability: genetic
RT   relationship to ataxia telangiectasia.";
RL   Am. J. Hum. Genet. 42:66-73(1988).
//
RX   PubMed=3803387; DOI=10.1111/j.1432-1033.1987.tb10598.x;
RA   Poot M., Verkerk A., Koster J.F., Esterbauer H., Jongkind J.F.;
RT   "Influence of cumene hydroperoxide and 4-hydroxynonenal on the
RT   glutathione metabolism during in vitro ageing of human skin
RT   fibroblasts.";
RL   Eur. J. Biochem. 162:287-291(1987).
//
RX   PubMed=7671243;
RA   Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L.,
RA   Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J.,
RA   Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.;
RT   "Different removal of ultraviolet photoproducts in genetically related
RT   xeroderma pigmentosum and trichothiodystrophy diseases.";
RL   Cancer Res. 55:4325-4332(1995).
//
RX   PubMed=8317483; PMCID=PMC1682247;
RA   Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.;
RT   "Xeroderma pigmentosum complementation group G associated with
RT   Cockayne syndrome.";
RL   Am. J. Hum. Genet. 53:185-192(1993).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
//
RX   PubMed=9012405; PMCID=PMC1712398;
RA   Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O.,
RA   Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.;
RT   "A mutation in the XPB/ERCC3 DNA repair transcription gene, associated
RT   with trichothiodystrophy.";
RL   Am. J. Hum. Genet. 60:320-329(1997).
//
RX   PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x;
RA   Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A.,
RA   Jaspers N.G.J., Kleijer W.J.;
RT   "Homozygous R788W point mutation in the XPF gene of a patient with
RT   xeroderma pigmentosum and late-onset neurologic disease.";
RL   J. Invest. Dermatol. 110:832-836(1998).
//
RX   PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x;
RA   Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M.,
RA   Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M.,
RA   Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T.,
RA   Cleaver J.E., Kraemer K.H.;
RT   "Relationship of neurologic degeneration to genotype in three
RT   xeroderma pigmentosum group G patients.";
RL   J. Invest. Dermatol. 118:972-982(2002).
//
RX   PubMed=14688028; DOI=10.1093/carcin/bgh046;
RA   Arbault S., Sojic N., Bruce D., Amatore C., Sarasin A., Vuillaume M.;
RT   "Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts.
RT   Real-time and single cell monitoring of superoxide and nitric oxide
RT   production with microelectrodes.";
RL   Carcinogenesis 25:509-515(2004).
//
RX   PubMed=15220921; DOI=10.1038/ng1387;
RA   Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F.,
RA   Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J.,
RA   Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J.,
RA   Vermeulen W.;
RT   "A new, tenth subunit of TFIIH is responsible for the DNA repair
RT   syndrome trichothiodystrophy group A.";
RL   Nat. Genet. 36:714-719(2004).
//
RX   PubMed=17273966; DOI=10.1086/512486; PMCID=PMC1821117;
RA   Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J.,
RA   Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J.,
RA   Hoeijmakers J.H.J., Vermeulen W.;
RT   "First reported patient with human ERCC1 deficiency has
RT   cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide
RT   excision repair and severe developmental failure.";
RL   Am. J. Hum. Genet. 80:457-466(2007).
//
RX   PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669;
RA   Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A.,
RA   Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W.,
RA   Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.;
RT   "Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA
RT   repair in XP-F patients.";
RL   PLoS Genet. 6:E1000871-E1000871(2010).
//
RX   PubMed=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936;
RA   Theil A.F., Botta E., Raams A., Smith D.E.C., Mendes M.I.,
RA   Caligiuri G., Giachetti S., Bione S., Carriero R., Liberi G.,
RA   Zardoni L., Swagemakers S.M.A., Salomons G.S., Sarasin A., Lehmann A.R.,
RA   van der Spek P.J., Ogi T., Hoeijmakers J.H.J., Vermeulen W.,
RA   Orioli D.;
RT   "Bi-allelic TARS mutations are associated with brittle hair
RT   phenotype.";
RL   Am. J. Hum. Genet. 105:434-440(2019).
//