ID   FDEENTi002-A
AC   CVCL_WP90
SY   XTW-C5
DR   BioSamples; SAMEA5712219
DR   hPSCreg; FDEENTi002-A
DR   Wikidata; Q93551912
RX   PubMed=31146250;
CC   From: Eye & ENT Hospital, Shanghai Medical School, Fudan University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 12703; BEST1; Simple; p.Asn296Lys (c.888C>A); ClinVar=VCV000546666; Zygosity=Heterozygous (PubMed=31146250).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118788; Vitelliform macular dystrophy
DI   ORDO; Orphanet_1243; Best vitelliform macular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31146250; DOI=10.1016/j.scr.2019.101459;
RA   Bai X.-Y., Yang X.-J., Chen L.;
RT   "Establishment of an induced pluripotent stem cell line (FDEENTi002-A)
RT   from a patient with Best's disease carrying c.888C>A mutation in BEST1
RT   gene.";
RL   Stem Cell Res. 38:101459-101459(2019).
//