ID   LEIi004-A
SY   L4-A
DR   BioSamples; SAMEA104626352
DR   hPSCreg; LEIi004-A
DR   Wikidata; Q54902437
RX   PubMed=29753273;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Sequence variation: Heterozygous for CLN3 c.461-280_677+382del (1.02-kb del) and p.Ala59Thr (c.175G>A) (PubMed=29753273).
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 12-03-20; Version: 4
RX   PubMed=29753273; DOI=10.1016/j.scr.2018.04.014;
RA   Zhang X., Zhang D., Chen S.-C., Lamey T., Thompson J.A., McLaren T.,
RA   De Roach J.N., Chen F.K., McLenachan S.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with non-syndromic CLN3-associated retinal degeneration and a
RT   coisogenic control line.";
RL   Stem Cell Res. 29:245-249(2018).