ID   RB-iPS-2
AC   CVCL_A4MV
DR   SKIP; SKIP001289
DR   Wikidata; Q105510718
RX   PubMed=27879208;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; p.Ser888Asn (c.2663G>A); ClinVar=VCV000527935; Zygosity=Heterozygous (PubMed=27879208).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C7541; Retinoblastoma
DI   ORDO; Orphanet_790; Retinoblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4MU ! RB-iPS-1
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=27879208; DOI=10.1016/j.scr.2016.08.015;
RA   Zeng S.-C., Liu L.-J., Ouyang Q., Zhao Y., Lin G., Hu L., Li W.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from a
RT   retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.";
RL   Stem Cell Res. 17:208-211(2016).
//