Cellosaurus cell line KCLi008-A (CVCL

Cross-references
Cell line name	KCLi008-A
Accession	CVCL_A5QY
Resource Identification Initiative	To cite this cell line use: KCLi008-A (RRID:CVCL_A5QY)
Comments	From: King's College London; London; United Kingdom. Population: Chinese. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4010; FUS; Simple; p.Gln519Glu (c.1555C>G); ClinVar=VCV000650787; Zygosity=Heterozygous (PubMed=33610019).
Disease	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	52Y
Category	Induced pluripotent stem cell
Publications	PubMed=33610019; DOI=10.1016/j.scr.2021.102246; PMCID=PMC7988463 Hedges E.C., Topp S., Shaw C.E.D., Nishimura A.L. Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11. Stem Cell Res. 52:102246-102246(2021)
Cell line databases/resources	hPSCreg; KCLi008-A
Encyclopedic resources	Wikidata; Q107115540
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6