ID   KRIBBi010-A
AC   CVCL_E5KY
SY   XLRS_R141C
DR   BioSamples; SAMEA116324608
DR   hPSCreg; KRIBBi010-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.Arg141Cys (c.421C>T); ClinVar=VCV000098959; 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   10Y
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, Sang-Yun
RA   Choi, Yong-Min
RA   Park, Yunho
RA   Kim, Seung-Hyun
RA   Song, Hyun Beom
RA   Kim, Jeong Hun
RA   Kwon, Ok-Seon
RA   Chung, Kyung-Sook
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).
//