ID   CSUASOi001-A
AC   CVCL_WU16
SY   XLRS-UiPSC
DR   hPSCreg; CSUASOi001-A
DR   SKIP; SKIP005555
DR   Wikidata; Q93459756
RX   PubMed=31141763;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10457; RS1; Simple; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous (PubMed=31141763).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell; CL=CL_0000066.
DI   NCIt; C75483; Juvenile X-linked retinoschisis
DI   ORDO; Orphanet_792; X-linked retinoschisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31141763; DOI=10.1016/j.scr.2019.101466;
RA   Yan X., Guo Y.-L., Chen J., Cui Z.-K., Gu J.-N., Wang Y.-N.,
RA   Mao S.-R., Ding C.-C., Chen J.-S., Tang S.-B.;
RT   "Establishment of CSUASOi001-A, a non-integrated induced pluripotent
RT   stem cell line from urine-derived cells of a Chinese patient carrying
RT   RS1 gene mutation.";
RL   Stem Cell Res. 38:101466-101466(2019).
//