Cellosaurus cell line KSCBi011-A (CVCL

Cross-references
Cell line name	KSCBi011-A
Synonyms	DKH090i-A; DHK-090iA; DKHi090-A
Accession	CVCL_WR23
Resource Identification Initiative	To cite this cell line use: KSCBi011-A (RRID:CVCL_WR23)
Comments	From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea. Population: Korean. Omics: SNP array analysis. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 17877; NMNAT1; Simple; p.Arg237Cys (c.709C>T); ClinVar=VCV000845745; Zygosity=Homozygous (PubMed=32036247).
Disease	Leber congenital amaurosis (NCIt: C129075) Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=32036247; DOI=10.1016/j.scr.2020.101725 Park H., Han J., Lee Y., Kwak S., Koo S.K. Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. Stem Cell Res. 43:101725-101725(2020) PubMed=33714852; DOI=10.1016/j.scr.2021.102270 Kim J.-H., Jo H.-Y., Ha H.-Y., Kim Y.-O. Korea National Stem Cell Bank. Stem Cell Res. 53:102270-102270(2021)
Cell line databases/resources	hPSCreg; KSCBi011-A SKIP; SKIP005692
Biological sample resources	BioSamples; SAMEA5892784
Encyclopedic resources	Wikidata; Q95980266
Gene expression databases	GEO; GSM4972454
Entry history
Entry creation	05-Jul-2019
Last entry update	29-Jun-2023
Version number	9