ID   CUIMCi005-A
AC   CVCL_C1SZ
SY   BB#2; BB9068#2; 9068
DR   BioSamples; SAMEA110758814
DR   hPSCreg; CUIMCi005-A
DR   Wikidata; Q114311313
RX   PubMed=36455383;
CC   From: Columbia University Irving Medical Center; New York; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Glu1650Argfs*12 (c.4947delC); ClinVar=VCV000289420; Zygosity=Heterozygous (PubMed=36455383).
CC   Sequence variation: Mutation; HGNC; 34; ABCA4; Simple; p.Gly1961Glu (c.5882G>A); ClinVar=VCV000007888; Zygosity=Heterozygous (PubMed=36455383).
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   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 5
//
RX   PubMed=36455383; DOI=10.1016/j.scr.2022.102973;
RA   Su P.-Y., Lee W., Zernant J., Tsang S.H., Nagasaki T., Corneo B.,
RA   Allikmets R.;
RT   "Establishment of the iPSC line CUIMCi005-A from a patient with
RT   Stargardt disease for retinal organoid culture.";
RL   Stem Cell Res. 65:102973-102973(2022).
//