Cellosaurus cell line SFMUi001-A (CVCL

Cross-references
Cell line name	SFMUi001-A
Accession	CVCL_C1WG
Resource Identification Initiative	To cite this cell line use: SFMUi001-A (RRID:CVCL_C1WG)
Comments	From: Shandong First Medical University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Ser180Pro (c.538T>C); ClinVar=VCV000554033; Zygosity=Heterozygous (PubMed=37126974). Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys934Trp (c.2802T>G); ClinVar=VCV000143179; Zygosity=Heterozygous (PubMed=37126974).
Disease	Usher syndrome type 2 (NCIt: C126328) Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	28Y
Category	Induced pluripotent stem cell
Publications	PubMed=37126974; DOI=10.1016/j.scr.2023.103101 Shi-Dong Qiu, Xiao-Hui Zhang, Lei Zhang, Zeng-Xiang Liu, Luan-Luan Wang, Zi-Bing Jin, Peng Xiao; Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with Usher syndrome type 2 caused by biallelic variants in the USH2A gene. Stem Cell Res. 69:103101-103101(2023)
Cell line databases/resources	hPSCreg; SFMUi001-A
Biological sample resources	BioSamples; SAMEA110645264
Encyclopedic resources	Wikidata; Q114312990
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6