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Cellosaurus KRIBBi012-A (CVCL_E5L0)

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Cell line name KRIBBi012-A
Synonyms XLRS_G44fs
Accession CVCL_E5L0
Resource Identification Initiative To cite this cell line use: KRIBBi012-A (RRID:CVCL_E5L0)
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.Gly44fs (c.130_140delGGAGGACCCAA); 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 8Y
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)

Cross-references
Cell line databases/resources hPSCreg; KRIBBi012-A
Biological sample resources BioSamples; SAMEA116325419
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1