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Cellosaurus KCLi010-A (CVCL_A5RA)

[Text version]

Cell line name KCLi010-A
Accession CVCL_A5RA
Resource Identification Initiative To cite this cell line use: KCLi010-A (RRID:CVCL_A5RA)
Comments From: King's College London; London; United Kingdom.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 4010; FUS; Simple; p.Arg522Gly (c.1564A>G); ClinVar=VCV000540279; 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 29Y
Category Induced pluripotent stem cell

PubMed=33610019; DOI=10.1016/j.scr.2021.102246
Hedges E.C., Topp S., Shaw C.E., 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; KCLi010-A
Encyclopedic resources Wikidata; Q107115544
Entry history
Entry creation20-May-2021
Last entry update16-Dec-2021
Version number3