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Cellosaurus CSUASOi001-A-1 (CVCL_D6KP)

[Text version]
Cell line name CSUASOi001-A-1
Synonyms CSUi006-A-1
Accession CVCL_D6KP
Resource Identification Initiative To cite this cell line use: CSUASOi001-A-1 (RRID:CVCL_D6KP)
Comments From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:10457; RS1; Simple_corrected; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38011758).
Disease Juvenile X-linked retinoschisis (NCIt: C75483)
X-linked retinoschisis (ORDO: Orphanet_792)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WU16 (CSUASOi001-A)
Sex of cell Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=38011758; DOI=10.1016/j.scr.2023.103263
Mao S.-R., Sun X.-H., Duan C.-W., Jiang B., Ma H.-J., Ji S.-L., Liang Y.-Q., Zhang R.-T., Chen J.-S., Tang S.-B.
Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.
Stem Cell Res. 73:103263-103263(2023)

Cross-references
Cell line databases/resources hPSCreg; CSUASOi001-A-1
Encyclopedic resources Wikidata; Q127380653
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3