ID   BIOi003-A
AC   CVCL_C1NS
SY   LYN-C1-P6
DR   BioSamples; SAMEA14374207
DR   hPSCreg; BIOi003-A
DR   Wikidata; Q114310750
RX   PubMed=35973334;
CC   From: Beijing Institute of Ophthalmology; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Arg408Ter (c.1222C>T); ClinVar=VCV000099035; Zygosity=Heterozygous (PubMed=35973334).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Phe973Leufs*3 (c.2919-884G>T); Zygosity=Heterozygous (PubMed=35973334).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35973334; DOI=10.1016/j.scr.2022.102894;
RA   Tian L., Zhang X.-H., Xu K., Li Y.;
RT   "Induced pluripotent stem cell line BIOi003-A from a patient with
RT   ABCA4-associated retinal dystrophy carrying compound heterozygous
RT   c.(1222C>T;2919-884G>T) variants in ABCA4.";
RL   Stem Cell Res. 64:102894-102894(2022).
//