Cellosaurus cell line PUMCHi015-A (CVCL

Cross-references
Cell line name	PUMCHi015-A
Synonyms	SRF-USH2A-1
Accession	CVCL_B0GR
Resource Identification Initiative	To cite this cell line use: PUMCHi015-A (RRID:CVCL_B0GR)
Comments	From: Peking Union Medical College Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys934Trp (c.2802T>G); ClinVar=VCV000143179; Zygosity=Heterozygous (PubMed=34419747). Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Arg4187His (c.12560G>A); ClinVar=VCV000865757; Zygosity=Heterozygous (PubMed=34419747).
Disease	Retinitis pigmentosa (NCIt: C85045) Usher syndrome type 2 (NCIt: C126328) Retinitis pigmentosa (ORDO: Orphanet_791) Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	45Y
Category	Induced pluripotent stem cell
Publications	PubMed=34419747; DOI=10.1016/j.scr.2021.102502 Zhu T., Wu S.-J., Sun Z.-X., Wei X., Han X.-X., Zou X., Sui R.-F. Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants. Stem Cell Res. 55:102502-102502(2021)
Cell line databases/resources	hPSCreg; PUMCHi015-A
Encyclopedic resources	Wikidata; Q108821190
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5