ID   LEIi004-A-1
AC   CVCL_VE94
SY   L4-A-1
DR   BioSamples; SAMEA4760675
DR   hPSCreg; LEIi004-A-1
DR   Wikidata; Q54902438
RX   PubMed=29753273;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2074; CLN3; Simple_corrected; p.Ala59Thr (c.175G>A); ClinVar=VCV000950856; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=29753273).
CC   Sequence variation: Mutation; HGNC; 2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (PubMed=29753273).
CC   Derived from sampling site: Skin; dermis.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_VE61 ! LEIi004-A
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 20-05-21; Version: 7
//
RX   PubMed=29753273; DOI=10.1016/j.scr.2018.04.014;
RA   Zhang X., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L.,
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).
//