ID   RMCGENi021-A
AC   CVCL_D6J7
SY   IPS22-00087
DR   BioSamples; SAMEA114490598
DR   hPSCreg; RMCGENi021-A
DR   Wikidata; Q127384061
RX   PubMed=38607040;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Glu1087Lys (c.3259G>A); ClinVar=VCV000099211; Zygosity=Heterozygous (PubMed=38607040).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Gln2272_Asp2273ins*11 (c.6817-713A>G); Zygosity=Heterozygous (PubMed=38607040).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85078; Stargardt disease
DI   ORDO; Orphanet_827; Stargardt disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38607040; DOI=10.3390/cells13070601; PMCID=PMC11011354;
RA   Suarez-Herrera N., Li C.H.Z., Leijsten N., Karjosukarso D.W.,
RA   Corradi Z., Bukkems F., Duijkers L., Cremers F.P.M., Hoyng C.B.,
RA   Garanto A., Collin R.W.J.;
RT   "Preclinical development of antisense oligonucleotides to rescue
RT   aberrant splicing caused by an ultrarare ABCA4 variant in a child
RT   with early-onset Stargardt disease.";
RL   Cells 13:601.1-601.21(2024).
//