• Mutation; HGNC; HGNC:9884; RB1; Simple; p.Arg320Ter (c.958C>T); ClinVar=VCV000126824; Zygosity=Heterozygous (PubMed=25326674).
  
• Mutation; HGNC; HGNC:9884; RB1; Simple; p.Leu797Ter (c.2390T>G); Zygosity=Heterozygous (PubMed=25326674).
  

PubMed=2090524; DOI=10.1111/j.1432-0436.1990.tb00479.x
Sabine Griegel, Kerstin Heise, Andrea Kindler-Rohrborn, Manfred Fedor Rajewsky;
In vitro differentiation of human retinoblastoma cells into neuronal phenotypes.
Differentiation 45:250-257(1990)

PubMed=2365495; DOI=10.1002/ijc.2910460123
Sabine Griegel, Chen Hong, Roland Frotschl, Dieter F. Hulser, Valerie Greger, Bernhard Horsthemke, Manfred Fedor Rajewsky;
Newly established human retinoblastoma cell lines exhibit an 'immortalized' but not an invasive phenotype in vitro.
Int. J. Cancer 46:125-132(1990)

PubMed=7959682; DOI=10.1007/BF00211013
Valerie Greger, Nils Debus, Dietmar R. Lohmann, Wolfgang Hopping, Eberhard Passarge, Bernhard Horsthemke;
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma.
Hum. Genet. 94:491-496(1994)

PubMed=25326674; DOI=10.1007/s00418-014-1285-z
Maike Anna Busch, Claudia Philippeit, Andreas Weise, Nicole Dunker;
Re-characterization of established human retinoblastoma cell lines.
Histochem. Cell Biol. 143:325-338(2015)

PubMed=30584916; DOI=10.1016/j.yexcr.2018.12.018
Melanie Schwermer, Michaela Hiber, Sabine Dreesmann, Anja Rieb, Jessica Theissen, Thomas Herold, Alexander Schramm, Petra Temming, Laura Steenpass;
Comprehensive characterization of RB1 mutant and MYCN amplified retinoblastoma cell lines.
Exp. Cell Res. 375:92-99(2019)