Cellosaurus cell line PUMCHi018-A (CVCL

Cross-references
Cell line name	PUMCHi018-A
Synonyms	SRF-RDH12-01
Accession	CVCL_B5S6
Resource Identification Initiative	To cite this cell line use: PUMCHi018-A (RRID:CVCL_B5S6)
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:19977; RDH12; Simple; p.Arg62Ter (c.184C>T); ClinVar=VCV000002050; Zygosity=Heterozygous (PubMed=35016144). Mutation; HGNC; HGNC:19977; RDH12; Simple; p.Val146Asp (c.437T>A); ClinVar=VCV000841398; Zygosity=Heterozygous (PubMed=35016144).
Disease	Leber congenital amaurosis (NCIt: C129075) Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=35016144; DOI=10.1016/j.scr.2022.102655 Xuan Zou, Shi-Jing Wu, Tian Zhu, Zi-Xi Sun, Xing Wei, Wu-Yi Li, Rui-Fang Sui; Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations. Stem Cell Res. 59:102655-102655(2022)
Cell line databases/resources	hPSCreg; PUMCHi018-A
Encyclopedic resources	Wikidata; Q112041632
Entry history
Entry creation	17-Mar-2022
Last entry update	19-Dec-2024
Version number	5