ID   CSUASOi005-A
AC   CVCL_YU19
SY   PJ-iPSC
DR   hPSCreg; CSUASOi005-A
DR   SKIP; SKIP005815
DR   Wikidata; Q93459766
RX   PubMed=32050117;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 10457; RS1; Simple; p.Phe176Tyr (c.527T>A); ClinVar=VCV000540204; ClinVar=VCV000540204; Zygosity=Hemizygous (PubMed=32050117).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75483; Juvenile X-linked retinoschisis
DI   ORDO; Orphanet_792; X-linked retinoschisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32050117; DOI=10.1016/j.scr.2020.101718;
RA   Mao S.-R., Ding C.-C., Zhou Y.-L., Jing Y.-T., Chen J., Guo Y.-L.,
RA   Liu J., Cui Z.-K., Yan X., Gu J.-N., Wang Y.-N., Chen J.-S.,
RA   Tang S.-B.;
RT   "Establishment of a human induced pluripotent stem cell line
RT   (CSUASOi005-A), from peripheral blood mononuclear cells of a patient
RT   with X-linked juvenile retinoschisis carrying a novel mutation in RS1
RT   gene.";
RL   Stem Cell Res. 43:101718-101718(2020).
//