ID   ABi004-A
AC   CVCL_E3QS
SY   KAA
DR   BioSamples; SAMEA115102216
DR   hPSCreg; ABi004-A
RX   PubMed=39083856;
CC   From: Moscow Institute of Physics and Technology, National Research University; Moscow; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:19698; KCNV2; Simple; p.Gln287Ter (c.859C>T); Zygosity=Heterozygous (PubMed=39083856).
CC   Sequence variation: Mutation; HGNC; HGNC:19698; KCNV2; Simple; p.Lys371Ter (c.1109dup); Zygosity=Heterozygous (PubMed=39083856).
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   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39083856; DOI=10.1016/j.scr.2024.103512;
RA   Alsalloum, Almaqdad
RA   Shefer, Kristina
RA   Bogdanov, Pavel
RA   Mingaleva, Natalia
RA   Kim, Alexander
RA   Feoktistova, Sofya Gumarovna
RA   Mityaeva, Olga
RA   Volchkov, Pavel Yuryevich
RT   "Establishment of a human induced pluripotent stem cell line
RT   (ABi004-A) carrying a compound heterozygous mutation in the KCNV2
RT   gene.";
RL   Stem Cell Res. 80:103512-103512(2024).
//