Home  |  Contact

Cellosaurus CSUASOi004-A (CVCL_YU18)

[Text version]
Cell line name CSUASOi004-A
Synonyms PRPF6-BiPS
Accession CVCL_YU18
Resource Identification Initiative To cite this cell line use: CSUASOi004-A (RRID:CVCL_YU18)
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; 15860; PRPF6; Simple; p.Arg900His (c.2699G>A); ClinVar=VCV000842292; Zygosity=Heterozygous (PubMed=32335390).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C4SD (CSUASOi004-A-1)
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=32335390; DOI=10.1016/j.scr.2020.101793
Zhou Y.-L., Jing Y.-T., Mao S.-R., Liu J., Cui Z.-K., Wang Y.-N., Chen J., Chan H.-F., Tang S.-B., Chen J.-S.
Establishment of induced pluripotent stem cell line CSUASOi004-A by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient.
Stem Cell Res. 45:101793-101793(2020)

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
SKIP; SKIP005749
Encyclopedic resources Wikidata; Q93459764
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8