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Cellosaurus CSUASOi004-A-1 (CVCL_C4SD)

[Text version]
Cell line name CSUASOi004-A-1
Accession CVCL_C4SD
Resource Identification Initiative To cite this cell line use: CSUASOi004-A-1 (RRID:CVCL_C4SD)
Comments From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:15860; PRPF6; Simple_corrected; p.Arg900His (c.2699G>A); ClinVar=VCV000842292; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36103774).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YU18 (CSUASOi004-A)
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=36103774; DOI=10.1016/j.scr.2022.102911
Liang Y.-Q., Sun X.-H., Duan C.-W., Zhou Y.-L., Cui Z.-K., Ding C.-C., Gu J.-N., Mao S.-R., Ji S.-L., Chan H.-F., Tang S.-B., Chen J.-S.
Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.
Stem Cell Res. 64:102911-102911(2022)

Cross-references
Cell line databases/resources hPSCreg; CSUASOi004-A-1
Encyclopedic resources Wikidata; Q116048806
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4