ID   LEIi014-C
AC   CVCL_A4CS
SY   1012ips11
DR   hPSCreg; LEIi014-C
DR   Wikidata; Q105509875
RX   PubMed=33360097;
CC   From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Tyr318Cysfs*17 (c.949C>A); Zygosity=Heterozygous (PubMed=33360097).
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Cys419Phe (c.1256G>T); ClinVar=VCV000002359; Zygosity=Heterozygous (PubMed=33360097).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4CQ ! LEIi014-A
OI   CVCL_A4CR ! LEIi014-B
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33360097; DOI=10.1016/j.scr.2020.102129;
RA   Zaw K., Wong E.Y.-M., Zhang X., Zhang D., Chen S.-C., Thompson J.A.,
RA   Lamey T.M., McLaren T.L., De Roach J.N., Wilton S.D., Fletcher S.,
RA   Mitrpant C., Atlas M.D., Chen F.K., McLenachan S.;
RT   "Generation of three induced pluripotent stem cell lines from a
RT   patient with Usher syndrome caused by biallelic c.949C > A and
RT   c.1256G > T mutations in the USH2A gene.";
RL   Stem Cell Res. 50:102129-102129(2021).
//