ID   ZOCi004-A
AC   CVCL_B5GN
SY   WYXI
DR   hPSCreg; ZOCi004-A
DR   Wikidata; Q110434443
RX   PubMed=36270067;
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.Glu72Lys (c.214G>A); ClinVar=VCV000009888; Zygosity=Hemizygous (PubMed=36270067).
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   8Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 6
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RX   PubMed=36270067; DOI=10.1016/j.scr.2022.102937;
RA   Zhang L.-Y., Liu X.-Y., Huang M.-W., Xu P., Lai Y.-T., Liu Y.-F.,
RA   Zhong X.-F., Li S.-S., Ding X.-Y.;
RT   "Generation of a X-linked juvenile retinoschisis patient-derived
RT   induced pluripotent stem cell line ZOCi004-A.";
RL   Stem Cell Res. 65:102937-102937(2022).
//