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) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
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 Erin Christine Hedges, Simon Topp, Christopher Edward Dennistoun Shaw, Agnes Lumi Nishimura; 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	10-Apr-2025
Version number	7