ID   LVPEIi002-A
AC   CVCL_D0HP
SY   LVIP02-RB-1
DR   BioSamples; SAMEA114314621
DR   hPSCreg; LVPEIi002-A
DR   Wikidata; Q123032985
RX   PubMed=38335663;
CC   From: LV Prasad Eye Institute; Banjara Hills; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:9884; RB1; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000126785; Zygosity=Heterozygous (PubMed=38335663).
CC   Derived from site: In situ; Eye, orbital adipose tissue; UBERON=UBERON_0006671.
CC   Cell type: Mesenchymal stem cell of orbital adipose tissue; CL=CL_4040004.
DI   NCIt; C7541; Retinoblastoma
DI   ORDO; Orphanet_790; Retinoblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38335663; DOI=10.1016/j.scr.2024.103329;
RA   Agrawal T., Maddileti S., Verma A., Kaliki S., Mariappan I.;
RT   "Generation of an induced pluripotent stem cell line (LVPEIi002-A)
RT   with heterozygous RB1 mutation using peri-orbital fat derived
RT   mesenchymal cells of a patient with inherited retinoblastoma.";
RL   Stem Cell Res. 76:103329-103329(2024).
//