ID   CSUASOi001-A-1
AC   CVCL_D6KP
SY   CSUi006-A-1
DR   hPSCreg; CSUASOi001-A-1
DR   Wikidata; Q127380653
RX   PubMed=38011758;
CC   From: Central South University, Aier School of Ophthalmology; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10457; RS1; Simple_corrected; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38011758).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C75483; Juvenile X-linked retinoschisis
DI   ORDO; Orphanet_792; X-linked retinoschisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WU16 ! CSUASOi001-A
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
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RX   PubMed=38011758; DOI=10.1016/j.scr.2023.103263;
RA   Mao S.-R., Sun X.-H., Duan C.-W., Jiang B., Ma H.-J., Ji S.-L.,
RA   Liang Y.-Q., Zhang R.-T., Chen J.-S., Tang S.-B.;
RT   "Generation of a gene-corrected isogenic iPSC cell line from an
RT   X-linked retinoschisis patient with a hemizygous mutation c.304C > T
RT   (p.R102W) in RS1 gene.";
RL   Stem Cell Res. 73:103263-103263(2023).
//