ID   LEIi010-A
SY   1011ips1
DR   hPSCreg; LEIi010-A
DR   Wikidata; Q95982058
RX   PubMed=30904819;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Sequence variation: Heterozygous for USH2A p.Tyr318Cysfs*17 (c.949C>A) and p.Cys419Phe (c.1256G>T) (PubMed=30904819).
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_WJ44 ! LEIi010-B
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 02-07-20; Version: 3
RX   PubMed=30904819; DOI=10.1016/j.scr.2019.101420;
RA   McLenachan S., Wong E.Y.-M., Zhang X., Leith F., Moon S.Y., Zhang D.,
RA   Chen S.-C., Thompson J.A., McLaren T., Lamey T., De Roach J.N.,
RA   Atlas M.D., Dilley R.J., Chen F.K.;
RT   "Generation of two induced pluripotent stem cell lines from a patient
RT   with compound heterozygous mutations in the USH2A gene.";
RL   Stem Cell Res. 36:101420-101420(2019).