ID   SCTCi016-A
AC   CVCL_B5T7
SY   IPS18-00092 clone 1
DR   BioSamples; SAMEA11324664
DR   hPSCreg; SCTCi016-A
DR   Wikidata; Q112044521
RX   PubMed=35121194;
CC   From: Radboudumc Stem Cell Technology Center; Nijmegen; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10294; RPE65; Simple; c.11+5G>A; ClinVar=VCV000098825; Zygosity=Homozygous (PubMed=35121194).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35121194; DOI=10.1016/j.scr.2022.102689;
RA   Vazquez-Dominguez I., Kwint M., Kroes H.Y., Albert S., O'Gorman L.,
RA   Gilissen C., Cremers F.P.M., Collin R.W.J., Roosing S., Garanto A.;
RT   "Generation of a patient-derived induced pluripotent cell line
RT   (SCTCi016-A) carrying a homozygous variant in RPE65.";
RL   Stem Cell Res. 60:102689-102689(2022).
//