Cellosaurus cell line CSUASOi001-A-1 (CVCL

Cross-references
Cell line name	CSUASOi001-A-1
Synonyms	CSUi006-A-1
Accession	CVCL_D6KP
Resource Identification Initiative	To cite this cell line use: CSUASOi001-A-1 (RRID:CVCL_D6KP)
Comments	From: Central South University, Aier School of Ophthalmology; Changsha; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:10457; RS1; Simple_corrected; p.Arg102Trp (c.304C>T); ClinVar=VCV000009887; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38011758).
Disease	Juvenile X-linked retinoschisis (NCIt: C75483) X-linked retinoschisis (ORDO: Orphanet_792)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_WU16 (CSUASOi001-A)
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=38011758; DOI=10.1016/j.scr.2023.103263 Sheng-Ru Mao, Xi-Hao Sun, Chun-Wen Duan, Bing Jiang, Hong-Jie Ma, Shang-Li Ji, Yu-Qin Liang, Ru-Ting Zhang, Jian-Su Chen, Shi-Bo Tang; Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene. Stem Cell Res. 73:103263-103263(2023)
Cell line databases/resources	hPSCreg; CSUASOi001-A-1
Encyclopedic resources	Wikidata; Q127380653
Entry history
Entry creation	02-May-2024
Last entry update	19-Dec-2024
Version number	3