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Cellosaurus KCLi008-A (CVCL_A5QY)

[Text version]
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; 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
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)

Cross-references
Cell line databases/resources hPSCreg; KCLi008-A
Encyclopedic resources Wikidata; Q107115540
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5