ID   JLUEYEi001-A
AC   CVCL_A5QB
SY   SticklerIPSC1
DR   hPSCreg; JLUEYEi001-A
DR   Wikidata; Q107115496
RX   PubMed=33647874;
CC   From: Eye Center of Second Hospital, Jilin University; Changchun; China.
CC   Population: Mongolian.
CC   Sequence variation: Mutation; HGNC; 2200; COL2A1; Unexplicit; IVS22-1C>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33647874).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168733; Stickler syndrome type 1
DI   ORDO; Orphanet_90653; Stickler syndrome type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33647874; DOI=10.1016/j.scr.2021.102255;
RA   Wu H., Yang B., Lv Z.-S., Liu L.-D., Gong W.-Q., Zhang S.-K.;
RT   "Generation and characterization of human induced pluripotent stem
RT   cells line JLUEYEi001-A from a 45 year old female with Stickler
RT   syndrome.";
RL   Stem Cell Res. 53:102255-102255(2021).
//