ID   830-c
AC   CVCL_VS18
SY   830c; NHM 830-c
DR   Wikidata; Q93310283
RX   PubMed=12006619;
RX   PubMed=16880792;
CC   Sequence variation: Mutation; HGNC; HGNC:6929; MC1R; Simple; p.Arg160Trp (c.478C>T); ClinVar=VCV000014310; Zygosity=Heterozygous (PubMed=12006619).
CC   Sequence variation: Mutation; HGNC; HGNC:6929; MC1R; Simple; p.Asp294His (c.880G>C); ClinVar=VCV000014307; Zygosity=Heterozygous (PubMed=12006619).
CC   Derived from site: In situ; Foreskin, skin; UBERON=UBERON_0001471.
CC   Cell type: Melanocyte of foreskin; CL=CL_2000045.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=12006619; DOI=10.1242/jcs.115.11.2349;
RA   Scott M.C., Wakamatsu K., Ito S., Kadekaro A.L., Kobayashi N.,
RA   Groden J., Kavanagh R., Takakuwa T., Virador V., Hearing V.J.,
RA   Abdel-Malek Z.A.;
RT   "Human melanocortin 1 receptor variants, receptor function and
RT   melanocyte response to UV radiation.";
RL   J. Cell Sci. 115:2349-2355(2002).
//
RX   PubMed=16880792; DOI=10.1038/sj.bjc.6603283; PMCID=PMC2360676;
RA   Gray-Schopfer V.C., Cheong S.-C., Chong H., Chow J., Moss T.,
RA   Abdel-Malek Z.A., Marais R., Wynford-Thomas D., Bennett D.C.;
RT   "Cellular senescence in naevi and immortalisation in melanoma: a role
RT   for p16?";
RL   Br. J. Cancer 95:496-505(2006).
//