ID   ABi002-A
AC   CVCL_C6TJ
SY   KCNV2-/-
DR   BioSamples; SAMEA112165270
DR   hPSCreg; ABi002-A
DR   Wikidata; Q123030647
RX   PubMed=37121194;
CC   From: Moscow Institute of Physics and Technology, National Research University; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 19698; KCNV2; Simple; c.754A>T; Zygosity=Heterozygous (PubMed=37121194).
CC   Sequence variation: Mutation; HGNC; 19698; KCNV2; Simple; p.Ala259Thr (c.775G>A); Zygosity=Heterozygous (PubMed=37121194).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192089; Retinal cone dystrophy 3B
DI   ORDO; Orphanet_209932; Cone dystrophy with supernormal rod response
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 30-01-24; Version: 3
//
RX   PubMed=37121194; DOI=10.1016/j.scr.2023.103099;
RA   Alsalloum A., Mityaeva O., Kegeles E., Khavina E., Volchkov P.;
RT   "Generation of two human induced pluripotent stem cell lines (ABi001-A
RT   and ABi002-A) from cone dystrophy with supernormal rod response
RT   patients caused by KCNV2 mutation.";
RL   Stem Cell Res. 69:103099-103099(2023).
//