Cellosaurus cell line KRIBBi011-A (CVCL

Cross-references
Cell line name	KRIBBi011-A
Synonyms	XLRS_E72K
Accession	CVCL_E5KZ
Resource Identification Initiative	To cite this cell line use: KRIBBi011-A (RRID:CVCL_E5KZ)
Comments	From: Korea Research Institute of Bioscience and Biotechnology; Daejeon; South Korea. Population: Asian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10457; RS1; Simple; p.Glu72Lys (c.214G>A); ClinVar=VCV000009888; Zygosity=Hemizygous (PubMed=39893900).
Disease	Juvenile X-linked retinoschisis (NCIt: C75483) X-linked retinoschisis (ORDO: Orphanet_792)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=39893900; DOI=10.1016/j.scr.2025.103665 Sang-Yun Kim, Yong-Min Choi, Yunho Park, Seung-Hyun Kim, Hyun Beom Song, Jeong Hun Kim, Ok-Seon Kwon, Kyung-Sook Chung; Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation. Stem Cell Res. 83:103665-103665(2025)
Cell line databases/resources	hPSCreg; KRIBBi011-A
Biological sample resources	BioSamples; SAMEA116325299
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1