ID   CSUi007-A
AC   CVCL_E3CK
DR   BioSamples; SAMEA114861658
DR   hPSCreg; CSUi007-A
RX   PubMed=39232357;
CC   From: Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10457; RS1; Simple_edited; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous; By CRISR/Cas9 (PubMed=39232357).
CC   Caution: Indicated by PubMed=39232357 to be derived from a normal iPSC but the paper does not describe the parental cell line.
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C75483; Juvenile X-linked retinoschisis
DI   ORDO; Orphanet_792; X-linked retinoschisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=39232357; DOI=10.1016/j.scr.2024.103549;
RA   Sun X.-H., Mao S.-R., Liang Y.-Q., Duan C.-W., Cui Z.-K., Gu J.-N.,
RA   Jiang B., Ding C.-C., Chen J.-S., Tang S.-B.;
RT   "Introduction of an RS1 mutation causative variant consistent with
RT   identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.";
RL   Stem Cell Res. 81:103549-103549(2024).
//