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Cellosaurus CSUASOi006-A (CVCL_ZX46)

[Text version]
Cell line name CSUASOi006-A
Synonyms RP-PRPF8; PRPF8-UiPS
Accession CVCL_ZX46
Resource Identification Initiative To cite this cell line use: CSUASOi006-A (RRID:CVCL_ZX46)
Comments From: Central South University, Aier School of Ophthalmology; Changsha; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; 17340; PRPF8; Simple; p.Thr1931Met (c.5792C>T); ClinVar=VCV000867014; Zygosity=Unspecified (PubMed=33157387).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=33157387; DOI=10.1016/j.scr.2020.102041
Zhou Y.-L., Cui Z.-K., Jing Y.-T., Mao S.-R., Chen D.-L., Ding C.-C., Gu J.-N., Chan H.-F., Tang S.-B., Chen J.-S.
Establishment of non-integrate induced pluripotent stem cell line CSUASOi006-A, from urine-derived cells of a PRPF8-related dominant retinitis pigmentosa patient.
Stem Cell Res. 49:102041-102041(2020)

Cross-references
Cell line databases/resources hPSCreg; CSUASOi006-A
Encyclopedic resources Wikidata; Q102113728
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5