Cellosaurus cell line ZOCi002-A (CVCL

Cross-references
Cell line name	ZOCi002-A
Synonyms	GZZH; ZOCi003-A
Accession	CVCL_B5GM
Resource Identification Initiative	To cite this cell line use: ZOCi002-A (RRID:CVCL_B5GM)
Comments	From: Zhongshan Ophthalmic Center, Sun Yat-sen University; Guangzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:10457; RS1; Simple; p.Arg102Gln (c.305G>A); ClinVar=VCV000009896; Zygosity=Hemizygous (PubMed=34798543).
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	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=34798543; DOI=10.1016/j.scr.2021.102595 Ya-Fen Liu, Xin-Yu Liu, Ming-Wei Huang, Lin-Yan Zhang, Jing-Lin Lu, Zhao-Tian Zhang, Xiao-Yan Ding; Generation of induced pluripotent stem cell (iPSC) line ZOCi003-A derived from peripheral blood mononuclear cells of X-linked juvenile retinoschisis harboring a hemizygous mutation in RS1 gene. Stem Cell Res. 57:102595-102595(2021)
Cell line databases/resources	hPSCreg; ZOCi002-A
Encyclopedic resources	Wikidata; Q110434442
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	7