ID   SCTCi017-A-1
AC   CVCL_C9I3
SY   IPS21-00183; RMCGENi018-A-1
DR   BioSamples; SAMEA113690252
DR   hPSCreg; SCTCi017-A-1
DR   Wikidata; Q123033407
RX   PubMed=37480818;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple_corrected; p.Cys1488Arg (c.4462T>C); ClinVar=VCV000099284; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37480818).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple_corrected; c.5196+1137G>A; ClinVar=VCV000438100; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37480818).
CC   Derived from site: In situ; Finger, skin; UBERON=UBERON_0003533.
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)
HI   CVCL_B5T6 ! SCTCi017-A
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37480818; DOI=10.1016/j.scr.2023.103169;
RA   Karjosukarso D.W., Bukkems F., Duijkers L., Leijsten N.,
RA   Collin R.W.J.;
RT   "Generation of three isogenic control lines from patient-derived iPSCs
RT   carrying bi-allelic ABCA4 variants underlying Stargardt disease.";
RL   Stem Cell Res. 71:103169-103169(2023).
//