Cellosaurus cell line CSUASOi005-A (CVCL

Cross-references
Cell line name	CSUASOi005-A
Synonyms	PJ-iPSC
Accession	CVCL_YU19
Resource Identification Initiative	To cite this cell line use: CSUASOi005-A (RRID:CVCL_YU19)
Comments	From: Central South University, Aier School of Ophthalmology; Changsha; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10457; RS1; Simple; p.Phe176Tyr (c.527T>A); ClinVar=VCV000540204; ClinVar=VCV000540204; Zygosity=Hemizygous (PubMed=32050117).
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	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=32050117; DOI=10.1016/j.scr.2020.101718 Mao S.-R., Ding C.-C., Zhou Y.-L., Jing Y.-T., Chen J., Guo Y.-L., Liu J., Cui Z.-K., Yan X., Gu J.-N., Wang Y.-N., Chen J.-S., Tang S.-B. Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. Stem Cell Res. 43:101718-101718(2020)
Cell line databases/resources	hPSCreg; CSUASOi005-A SKIP; SKIP005815
Encyclopedic resources	Wikidata; Q93459766
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9