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Cellosaurus CSUi007-A (CVCL_E3CK)

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Cell line name CSUi007-A
Accession CVCL_E3CK
Resource Identification Initiative To cite this cell line use: CSUi007-A (RRID:CVCL_E3CK)
Comments From: Central South University; Changsha; China.
Population: Chinese; Han.
Caution: Indicated by PubMed=39232357 to be derived from a normal iPSC but the paper does not describe the parental cell line.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:10457; RS1; Simple_edited; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=39232357).
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 33Y
Category Induced pluripotent stem cell
Publications

PubMed=39232357; DOI=10.1016/j.scr.2024.103549
Xi-Hao Sun, Sheng-Ru Mao, Yu-Qin Liang, Chun-Wen Duan, Ze-Kai Cui, Jia-Ning Gu, Bing Jiang, Cheng-Cheng Ding, Jian-Su Chen, Shi-Bo Tang;
Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.
Stem Cell Res. 81:103549-103549(2024)

Cross-references
Cell line databases/resources hPSCreg; CSUi007-A
Biological sample resources BioSamples; SAMEA114861658
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2