ID   KRIBBi011-A
AC   CVCL_E5KZ
SY   XLRS_E72K
DR   BioSamples; SAMEA116325299
DR   hPSCreg; KRIBBi011-A
RX   PubMed=39893900;
CC   From: Korea Research Institute of Bioscience and Biotechnology; Daejeon; South Korea.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:10457; RS1; Simple; p.Glu72Lys (c.214G>A); ClinVar=VCV000009888; Zygosity=Hemizygous (PubMed=39893900).
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: 10-04-25; Last updated: 10-04-25; Version: 1
//
RX   PubMed=39893900; DOI=10.1016/j.scr.2025.103665;
RA   Kim S.Y., Choi Y.-M., Park Y., Kim S.-H., Song H.B., Kim J.H.,
RA   Kwon O.-S., Chung K.-S.;
RT   "Generation of human induced pluripotent stem cell lines from three
RT   different male XLRS patients carrying RS1 gene mutation.";
RL   Stem Cell Res. 83:103665-103665(2025).
//