ID   ZOCi002-A
AC   CVCL_B5GM
SY   GZZH; ZOCi003-A
DR   hPSCreg; ZOCi002-A
DR   Wikidata; Q110434442
RX   PubMed=34798543;
CC   From: Zhongshan Ophthalmic Center, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:10457; RS1; Simple; p.Arg102Gln (c.305G>A); ClinVar=VCV000009896; Zygosity=Hemizygous (PubMed=34798543).
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   7Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=34798543; DOI=10.1016/j.scr.2021.102595;
RA   Liu Y.-F., Liu X.-Y., Huang M.-W., Zhang L.-Y., Lu J.-L.,
RA   Zhang Z.-T., Ding X.-Y.;
RT   "Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A
RT   derived from peripheral blood mononuclear cells of X-linked juvenile
RT   retinoschisis harboring a hemizygous mutation in RS1 gene.";
RL   Stem Cell Res. 57:102595-102595(2021).
//